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JAMES LUPSKI
Concepts (1710)
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Concepts are derived automatically from a person's publications.
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Categories
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In this concept 'cloud', the sizes of the concepts are based not only on the number of corresponding publications, but also how relevant the concepts are to the overall topics of the publications, how long ago the publications were written, whether the person was the first or senior author, and how many other people have written about the same topic. The largest concepts are those that are most unique to this person.
14-3-3 Proteins
1-Alkyl-2-acetylglycerophosphocholine Esterase
3' Untranslated Regions
46, XX Disorders of Sex Development
46, XX Testicular Disorders of Sex Development
Abdomen
Abnormal Karyotype
Abnormalities, Multiple
Absorptiometry, Photon
Academies and Institutes
Acetyltransferases
Acid Anhydride Hydrolases
Acromegaly
Actin-Related Protein 2-3 Complex
Actins
Action Potentials
Activities of Daily Living
Acyl-CoA Dehydrogenase, Long-Chain
Acyltransferases
ADAMTS Proteins
Adaptation, Psychological
Adaptor Proteins, Signal Transducing
Adaptor Proteins, Vesicular Transport
Adenoma
Adenosine Triphosphatases
Adenosine Triphosphate
Administration, Oral
Adolescent
ADP-Ribosylation Factor 1
Adrenal Glands
Adrenalectomy
Adult
Affective Disorders, Psychotic
Agammaglobulinemia
Age of Onset
Aged
Aged, 80 and over
Agenesis of Corpus Callosum
Aging
Aging, Premature
Alagille Syndrome
Alanine-tRNA Ligase
Alcohol Oxidoreductases
Aldosterone
Algorithms
AlkB Homolog 8, tRNA Methyltransferase
Alkyl and Aryl Transferases
Alleles
Allelic Imbalance
Alopecia
alpha7 Nicotinic Acetylcholine Receptor
Alternative Splicing
Alu Elements
Alzheimer Disease
Amenorrhea
Amiloride
Amines
Amino Acid Motifs
Amino Acid Sequence
Amino Acid Substitution
Amino Acids
Aminoacylation
Aminoquinolines
Amish
Amniocentesis
Amniotic Fluid
AMP-Activated Protein Kinases
Aneuploidy
Angelman Syndrome
Animals
Animals, Genetically Modified
Ankyrins
Anodontia
Anophthalmos
Anti-Bacterial Agents
Antibodies
Antibodies, Monoclonal
Antigens, CD
Antigens, Neoplasm
Antigens, Nuclear
Antigens, Protozoan
Antigens, Surface
Anti-Inflammatory Agents, Non-Steroidal
Antipsychotic Agents
Anxiety
Apolipoprotein E4
Apoptosis
Apoptosis Regulatory Proteins
Apyrase
Aquaporins
Aqueous Humor
Arabidopsis
Arabs
Arginine
Armadillo Domain Proteins
Arrhythmias, Cardiac
Arteries
Arthritis
Arthrogryposis
Aryl Hydrocarbon Hydroxylases
Asialoglycoprotein Receptor
Asymmetric Cell Division
AT Rich Sequence
Ataxia
Ataxia Telangiectasia Mutated Proteins
ATPases Associated with Diverse Cellular Activities
ATP-Binding Cassette Transporters
Atrial Fibrillation
Atrioventricular Block
Atrophy
Attention Deficit Disorder with Hyperactivity
Audiometry
Auditory Threshold
Australia
Autism Spectrum Disorder
Autistic Disorder
Autoantibodies
Autoantigens
Autoimmune Diseases
Autoimmunity
Automation
Autonomic Nervous System
Autonomic Nervous System Diseases
Autonomic Pathways
Autophagy
Autophagy-Related Protein-1 Homolog
Autopsy
Awards and Prizes
Axoneme
Axons
Azoospermia
Bacillus subtilis
Bacteremia
Bacteria
Bacterial Adhesion
Bacterial Infections
Bacterial Outer Membrane Proteins
Bacterial Proteins
Bacterial Toxins
Bacterial Typing Techniques
Bacteriological Techniques
Bacteriophage lambda
Bacteriophage mu
Bardet-Biedl Syndrome
Basal Cell Nevus Syndrome
Base Composition
Base Pairing
Base Sequence
Basic Helix-Loop-Helix Transcription Factors
Bayes Theorem
Behavior
Behavior, Animal
Behavioral Symptoms
beta Catenin
Bicarbonates
Bile Acids and Salts
Binding Sites
Biological Evolution
Biological Variation, Population
Biomarkers
Biomedical Research
Biomedical Technology
Biopsy
Biosensing Techniques
Bipolar Disorder
Blast Crisis
Blastocyst
Blepharophimosis
Blindness
Blindness, Cortical
Blood Glucose
Blood Platelets
Blood Protein Electrophoresis
Blood-Brain Barrier
Blotting, Northern
Blotting, Southern
Blotting, Western
B-Lymphocytes
Body Dysmorphic Disorders
Body Height
Body Mass Index
Body Patterning
Body Weight
Body Weights and Measures
Bone and Bones
Bone Development
Bone Diseases, Developmental
Bone Diseases, Metabolic
Bone Marrow
Bone Marrow Diseases
Bone Morphogenetic Protein 2
Bone Morphogenetic Protein 4
Bone Morphogenetic Protein 7
Bone Morphogenetic Protein Receptors, Type I
Bone Morphogenetic Proteins
Bradycardia
Brain
Brain Diseases
Brain Diseases, Metabolic, Inborn
Brain Edema
Brain Neoplasms
BRCA1 Protein
Cadherins
Caenorhabditis elegans
Calcium Channels
Calcium Channels, L-Type
Calcium-Binding Proteins
Calmodulin-Binding Proteins
Calpain
Camptothecin
Capillary Permeability
Carcinoma, Hepatocellular
Cardiac Myosins
Cardiomyopathies
Cardiomyopathy, Dilated
Cardiomyopathy, Hypertrophic
Cardiovascular Abnormalities
Cardiovascular Diseases
Carpal Tunnel Syndrome
Carrier Proteins
Case-Control Studies
Catalysis
Cataract
Cathepsin A
Cation Transport Proteins
Cations
Caveolin 3
CCAAT-Enhancer-Binding Proteins
CD4-Positive T-Lymphocytes
CD56 Antigen
CDC2 Protein Kinase
cdc42 GTP-Binding Protein
Cebidae
Cell Adhesion Molecules
Cell Cycle
Cell Cycle Checkpoints
Cell Cycle Proteins
Cell Differentiation
Cell Division
Cell Line
Cell Line, Transformed
Cell Line, Tumor
Cell Movement
Cell Polarity
Cell Proliferation
Cells, Cultured
Central Nervous System
Central Nervous System Diseases
Centromere
Cerebellar Ataxia
Cerebellar Diseases
Cerebellar Neoplasms
Cerebellum
Cerebral Cortex
Cerebral Palsy
Cerebrum
Cervical Vertebrae
Chaperonins
Charcot-Marie-Tooth Disease
CHARGE Syndrome
Chick Embryo
Chickenpox
Child
Child Behavior
Child Behavior Disorders
Child Development Disorders, Pervasive
Child Rearing
Child, Preschool
Chile
Chimera
China
Chloramphenicol O-Acetyltransferase
Chloride Channels
Chloride-Bicarbonate Antiporters
Chloroquine
CHO Cells
Cholestasis, Intrahepatic
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Chondrocytes
Chondroitin Sulfate Proteoglycans
Chorionic Villi Sampling
Chromatin
Chromatin Immunoprecipitation
Chromatography, High Pressure Liquid
Chromosomal Proteins, Non-Histone
Chromosome Aberrations
Chromosome Banding
Chromosome Breakage
Chromosome Breakpoints
Chromosome Deletion
Chromosome Disorders
Chromosome Duplication
Chromosome Fragile Sites
Chromosome Fragility
Chromosome Inversion
Chromosome Mapping
Chromosome Pairing
Chromosome Segregation
Chromosomes
Chromosomes, Artificial, Bacterial
Chromosomes, Artificial, P1 Bacteriophage
Chromosomes, Artificial, Yeast
Chromosomes, Bacterial
Chromosomes, Fungal
Chromosomes, Human
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 17
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 5
Chromosomes, Human, Pair 6
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 9
Chromosomes, Human, X
Chromosomes, Human, Y
Chromosomes, Mammalian
Chronobiology Disorders
Cilia
Ciliary Body
Circadian Rhythm
cis-trans-Isomerases
Citrobacter
Class I Phosphatidylinositol 3-Kinases
Classical Lissencephalies and Subcortical Band Heterotopias
Cleft Lip
Cleft Palate
Clinical Competence
Clinical Laboratory Techniques
Clone Cells
Cloning, Molecular
Cluster Analysis
Coatomer Protein
Cochlea
Codon
Codon, Nonsense
Codon, Terminator
Cognition
Cognition Disorders
Cohort Studies
Cold Temperature
Colforsin
Coliphages
Colitis
Colitis, Ulcerative
Coloboma
Colon
Color Vision Defects
Comet Assay
Common Variable Immunodeficiency
Communicable Diseases
Communicable Diseases, Emerging
Community-Acquired Infections
Comorbidity
Comparative Genomic Hybridization
Computational Biology
Computer Simulation
Congenital Abnormalities
Congenital Disorders of Glycosylation
Congenital Microtia
Congresses as Topic
Connectin
Connexin 26
Connexins
Consanguinity
Consensus Sequence
Conserved Sequence
Contig Mapping
Contracture
COP9 Signalosome Complex
Cord Blood Stem Cell Transplantation
Corneal Diseases
Corneal Opacity
Corpus Callosum
COS Cells
Cosmids
Costa Rica
COUP Transcription Factor I
CpG Islands
Craniofacial Abnormalities
Creatine Kinase
Cricetinae
Cricetulus
CRISPR-Cas Systems
Critical Care
Crohn Disease
Cross Infection
Crossing Over, Genetic
Cross-Sectional Studies
Crystallography
Crystallography, X-Ray
Culture Media
Curcumin
Cushing Syndrome
Cyclic AMP Response Element-Binding Protein
Cyclic AMP-Dependent Protein Kinase Catalytic Subunits
Cyclic GMP
Cyclic Nucleotide-Gated Cation Channels
Cyclin-Dependent Kinase Inhibitor p21
Cysteine
Cytidine Deaminase
Cytochrome P-450 CYP1B1
Cytochrome P-450 Enzyme System
Cytogenetic Analysis
Cytogenetics
Cytokines
Cytomegalovirus
Cytomegalovirus Infections
Cytoplasm
Cytoskeletal Proteins
Cytoskeleton
Cytotoxicity, Immunologic
Dark Adaptation
Data Interpretation, Statistical
Data Mining
Databases as Topic
Databases, Factual
Databases, Genetic
Databases, Nucleic Acid
Datasets as Topic
DAX-1 Orphan Nuclear Receptor
De Lange Syndrome
DEAD-box RNA Helicases
Deafness
Death, Sudden
Death, Sudden, Cardiac
Decision Making
Deglutition Disorders
Democratic Republic of the Congo
Demyelinating Diseases
Dendrites
Dendritic Cells
Densitometry
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific
Dermatitis
Dermis
Developmental Disabilities
Diabetes, Gestational
Diabetic Neuropathies
Diagnosis, Differential
Dichlorodiphenyl Dichloroethylene
Diet, High-Fat
Diffuse Cerebral Sclerosis of Schilder
DiGeorge Syndrome
Diploidy
Disclosure
Disease
Disease Management
Disease Models, Animal
Disease Outbreaks
Disease Progression
Disease Susceptibility
Diseases in Twins
Dishevelled Proteins
Disorders of Sex Development
DNA
DNA Breaks
DNA Breaks, Double-Stranded
DNA Breaks, Single-Stranded
DNA Copy Number Variations
DNA Damage
DNA End-Joining Repair
DNA Fingerprinting
DNA Helicases
DNA Ligase ATP
DNA Ligases
DNA Methylation
DNA Mutational Analysis
DNA Primase
DNA Primers
DNA Probes
DNA Repair
DNA Replication
DNA Replication Timing
DNA Restriction Enzymes
DNA Topoisomerases, Type I
DNA Transposable Elements
DNA, Antisense
DNA, Bacterial
DNA, Complementary
DNA, Mitochondrial
DNA, Recombinant
DNA, Single-Stranded
DNA, Viral
DNA-Binding Proteins
DNA-Directed DNA Polymerase
DNA-Directed RNA Polymerases
Dosage Compensation, Genetic
Double-Blind Method
Down Syndrome
Down-Regulation
Drinking
Drosophila
Drosophila melanogaster
Drosophila Proteins
Drug Resistance, Bacterial
Drug Resistance, Microbial
Drug Synergism
Drug Therapy, Combination
Duodenal Ulcer
Dwarfism
Dwarfism, Pituitary
Dyneins
Dysarthria
Dystonia
Dystonic Disorders
Dystrophin
Early Detection of Cancer
Early Growth Response Protein 2
Echocardiography
Education
Egypt
Elastin
Electrocardiography
Electrodiagnosis
Electroencephalography
Electron Transport Complex IV
Electrophoresis, Agar Gel
Electrophoresis, Gel, Pulsed-Field
Electrophoresis, Polyacrylamide Gel
Electrophysiology
Electroretinography
Embryo Implantation
Embryo, Mammalian
Embryonic and Fetal Development
Embryonic Development
Encephalitis
Endodeoxyribonucleases
Endoglin
Endonucleases
Endopeptidases
Endoplasmic Reticulum
Endoplasmic Reticulum Stress
Endoplasmic Reticulum-Associated Degradation
Endoribonucleases
Endothelial Cells
Enhancer Elements, Genetic
Enteral Nutrition
Enteric Nervous System
Enterobacter
Enterobacteriaceae
Enterobacteriaceae Infections
Environmental Pollutants
Enzyme Assays
Enzyme Stability
Epidemiologic Methods
Epidermodysplasia Verruciformis
Epigenesis, Genetic
Epilepsies, Myoclonic
Epilepsies, Partial
Epilepsy
Epilepsy, Generalized
Epistasis, Genetic
Epithelial Cells
Epithelial Sodium Channels
Epithelium
Epitopes
Epstein-Barr Virus Infections
Escherichia coli
Escherichia coli Proteins
Essential Hypertension
Ethylnitrosourea
Eukaryotic Cells
Europe
Evaluation Studies as Topic
Evidence-Based Medicine
Evoked Potentials, Auditory, Brain Stem
Evolution, Molecular
Exocrine Pancreatic Insufficiency
Exodeoxyribonucleases
Exome
Exons
Exonucleases
Exosome Multienzyme Ribonuclease Complex
Expressed Sequence Tags
Extracellular Matrix
Extracellular Matrix Proteins
Extremities
Eye
Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Eye Proteins
Eyelids
Face
Facial Asymmetry
Facial Paralysis
Facies
Factor XII
Factor XII Deficiency
Failure to Thrive
Family
Family Health
Fanconi Anemia
Fatal Outcome
Fathers
Feeding and Eating Disorders
Female
Fertility
Fertilization in Vitro
Fetal Blood
Fetal Diseases
Fetus
Fibrillar Collagens
Fibrillin-1
Fibrillins
Fibroblast Growth Factor 10
Fibroblasts
Fibromatosis, Gingival
Fibrosis
Finland
Flavoproteins
Flow Cytometry
Fluorescence
Fluorescent Antibody Technique
Fluorescent Dyes
Focal Adhesion Protein-Tyrosine Kinases
Follow-Up Studies
Forkhead Box Protein L2
Forkhead Transcription Factors
Founder Effect
Frameshift Mutation
France
Functional Laterality
Fundus Oculi
Fungal Proteins
Fusion Proteins, bcr-abl
Gain of Function Mutation
Gametogenesis
Ganglioglioma
Gangliosidosis, GM1
Gastritis
Gastroesophageal Reflux
Gastrointestinal Motility
Gastrulation
Gelsolin
Geminin
Gene Amplification
Gene Components
Gene Conversion
Gene Deletion
Gene Dosage
Gene Duplication
Gene Editing
Gene Expression
Gene Expression Profiling
Gene Expression Regulation
Gene Expression Regulation, Bacterial
Gene Expression Regulation, Developmental
Gene Frequency
Gene Knockdown Techniques
Gene Knockout Techniques
Gene Library
Gene Order
Gene Rearrangement
Gene Regulatory Networks
Gene Targeting
Gene Transfer Techniques
Gene-Environment Interaction
Genes
Genes, Bacterial
Genes, Dominant
Genes, Duplicate
Genes, Insect
Genes, Lethal
Genes, Plant
Genes, Recessive
Genes, Regulator
Genes, Reporter
Genes, Suppressor
Genes, Tumor Suppressor
Genes, Viral
Genes, X-Linked
Genetic Association Studies
Genetic Carrier Screening
Genetic Complementation Test
Genetic Counseling
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Genetic Drift
Genetic Engineering
Genetic Heterogeneity
Genetic Linkage
Genetic Load
Genetic Loci
Genetic Markers
Genetic Pleiotropy
Genetic Predisposition to Disease
Genetic Privacy
Genetic Techniques
Genetic Testing
Genetic Therapy
Genetic Variation
Genetic Vectors
Genetics
Genetics, Behavioral
Genetics, Medical
Genetics, Microbial
Genetics, Population
Genitalia
Genome
Genome, Bacterial
Genome, Human
Genome, Mitochondrial
Genome-Wide Association Study
Genomic Imprinting
Genomic Instability
Genomic Structural Variation
Genomics
Genotype
Genotyping Techniques
Germ Cells
Germ-Line Mutation
Gestational Age
Gigantism
Glaucoma
Glaucoma, Open-Angle
Glucose
Glucose Tolerance Test
Glutamine
Glycerol
Glycine
Glycine Agents
Glycine Dehydrogenase (Decarboxylating)
Glycine-tRNA Ligase
Glycogen
Glycolates
Glycosylation
Goldenhar Syndrome
Golgi Apparatus
Gorilla gorilla
GPI-Linked Proteins
Gram-Negative Bacteria
Gram-Positive Bacteria
Granuloma
Green Fluorescent Proteins
Group II Chaperonins
Growth and Development
Growth Disorders
GTP Phosphohydrolases
GTP-Binding Protein alpha Subunits, Gi-Go
GTP-Binding Protein beta Subunits
GTP-Binding Proteins
Guanine Nucleotide Exchange Factors
Guanosine
Guanosine Triphosphate
Guanylate Cyclase
Haemophilus influenzae
Hamartoma
Hand Deformities, Congenital
Haploinsufficiency
Haplorhini
Haplotypes
HapMap Project
Hearing Loss
Hearing Loss, Sensorineural
Hearing Loss, Unilateral
Heart Atria
Heart Defects, Congenital
Heart Rate
Heart Ventricles
Hedgehog Proteins
HEK293 Cells
HeLa Cells
Helicobacter Infections
Helicobacter pylori
Hematopoiesis
Hematopoietic Stem Cells
Hemizygote
Hepatocyte Nuclear Factor 1-beta
Hereditary Central Nervous System Demyelinating Diseases
Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Motor Neuropathy
Heredity
Heredodegenerative Disorders, Nervous System
Hernias, Diaphragmatic, Congenital
Herpes Genitalis
Herpesviridae Infections
Herpesvirus 4, Human
Heterochromatin
Heteroduplex Analysis
Heterotaxy Syndrome
Heterozygote
Hexokinase
High Mobility Group Proteins
High-Throughput Nucleotide Sequencing
Hip Dislocation
Hirschsprung Disease
Histidine
Histidine-tRNA Ligase
Histological Techniques
Histone Acetyltransferases
Histone Deacetylases
Histone-Lysine N-Methyltransferase
History, 20th Century
History, 21st Century
Homeodomain Proteins
Hominidae
Homocystinuria
Homologous Recombination
Homozygote
Hospitals, Pediatric
Hospitals, University
Hospitals, Urban
HSP40 Heat-Shock Proteins
HSP70 Heat-Shock Proteins
Human Genetics
Human Genome Project
Human Growth Hormone
Humans
Hyaluronoglucosaminidase
Hybrid Cells
Hydrochlorothiazide
Hydroxychloroquine
Hydroxylamines
Hydroxymethylglutaryl CoA Reductases
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Hypercholesterolemia
Hyperparathyroidism
Hyperplasia
Hypersensitivity
Hypertension
Hypertension, Pulmonary
Hypertriglyceridemia
Hyperventilation
Hypocalcemia
Hypogonadism
Hypokalemia
Hypopituitarism
Imaging, Three-Dimensional
Immediate-Early Proteins
Immune System
Immunity
Immunity, Humoral
Immunity, Innate
Immunoblotting
Immunoglobulins
Immunohistochemistry
Immunologic Deficiency Syndromes
Immunologic Memory
Immunological Synapses
Immunophenotyping
In Situ Hybridization
In Situ Hybridization, Fluorescence
In Vitro Techniques
Incidence
Incidental Findings
INDEL Mutation
India
Individuality
Induced Pluripotent Stem Cells
Infant
Infant Care
Infant, Newborn
Infant, Newborn, Diseases
Infant, Premature
Infectious Disease Transmission, Vertical
Infertility, Male
Inflammation
Inflammatory Bowel Diseases
Information Dissemination
Informed Consent
Inheritance Patterns
Insect Proteins
Insulin
Insulin-Like Growth Factor Binding Protein 3
Insulin-Like Growth Factor I
Intellectual Disability
Intelligence
Intensive Care Units, Pediatric
Intercellular Signaling Peptides and Proteins
Interferon Regulatory Factors
Interferon Type I
Interferon-Induced Helicase, IFIH1
Interferons
Interleukin Receptor Common gamma Subunit
Interleukin-1 Receptor-Associated Kinases
Interleukin-17
Interleukin-2 Receptor alpha Subunit
International Cooperation
Internet
Interphase
Interspersed Repetitive Sequences
Intestinal Mucosa
Intestinal Pseudo-Obstruction
Intestine, Small
Intracellular Signaling Peptides and Proteins
Intracranial Aneurysm
Intracranial Arteriovenous Malformations
Intracranial Hemorrhages
Introns
Inverted Repeat Sequences
Ion Channels
Iran
Iraq
Iris Diseases
Iron Metabolism Disorders
Isochromosomes
Israel
Italy
Jagged-1 Protein
Janus Kinase 1
Japan
Joints
Kartagener Syndrome
Karyotype
Karyotyping
Keratoconus
Ketoglutarate Dehydrogenase Complex
Ketoglutaric Acids
Kidney
Kidney Diseases, Cystic
Kidney Failure, Chronic
Killer Cells, Natural
Kinetics
Klebsiella Infections
Klebsiella pneumoniae
Klinefelter Syndrome
Klippel-Feil Syndrome
Kv1.1 Potassium Channel
Lac Operon
Lamin Type A
Laminin
Language
Language Development Disorders
Language Disorders
Leadership
Learning
Leber Congenital Amaurosis
Legionella
Length of Stay
Leprosy, Tuberculoid
Leptin
Leucine
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Leukoencephalopathies
Levodopa
Liddle Syndrome
Likelihood Functions
LIM Domain Proteins
Limb Deformities, Congenital
Limit of Detection
Linkage Disequilibrium
Lipodystrophy
Lipodystrophy, Congenital Generalized
Lipomatosis
Lipoproteins
Lissencephaly
Listeria monocytogenes
Liver
Liver Diseases
Liver Failure
Liver Neoplasms
Locomotion
Lod Score
Long Interspersed Nucleotide Elements
Longitudinal Studies
Loss of Function Mutation
Loss of Heterozygosity
Low Density Lipoprotein Receptor-Related Protein-6
Lung
Lung Diseases
Lung Diseases, Interstitial
Lupus Erythematosus, Systemic
Lymphocyte Activation
Lymphocytes
Lymphohistiocytosis, Hemophagocytic
Lymphopenia
Lymphopoiesis
Lymphoproliferative Disorders
Lysine
Lysine-tRNA Ligase
Lysosomal Storage Diseases
Macaca mulatta
Macula Lutea
Macular Degeneration
Magnetic Resonance Imaging
Magnetic Resonance Imaging, Cine
Malaria
Male
Malformations of Cortical Development
Mammals
Mandatory Reporting
Marfan Syndrome
MARVEL Domain-Containing Proteins
Mass Vaccination
Maternal Inheritance
Matrix Attachment Regions
Mechanistic Target of Rapamycin Complex 1
Mechanistic Target of Rapamycin Complex 2
Median Nerve
Mediator Complex
Medulloblastoma
Megalencephaly
Meiosis
Melanocytes
Melatonin
Membrane Glycoproteins
Membrane Proteins
Membrane Transport Proteins
Memory
Memory Disorders
Mendelian Randomization Analysis
Meningitis, Meningococcal
Meningococcal Infections
Meningococcal Vaccines
Menopause, Premature
Mental Disorders
Mental Retardation, X-Linked
Metabolome
Metacarpophalangeal Joint
Metalloendopeptidases
Methicillin Resistance
Methionine
Methylation
Methyl-CpG-Binding Protein 2
Mevalonic Acid
Mice
Mice, Inbred BALB C
Mice, Inbred C57BL
Mice, Inbred CBA
Mice, Inbred NOD
Mice, Inbred Strains
Mice, Knockout
Mice, Mutant Strains
Mice, Neurologic Mutants
Mice, Transgenic
Microarray Analysis
Microbial Sensitivity Tests
Microcephaly
Microfilament Proteins
Micrognathism
Microphthalmos
Microsatellite Repeats
Microscopy, Acoustic
Microscopy, Confocal
Microscopy, Electron
Microscopy, Electron, Transmission
Microscopy, Fluorescence
Microtubule-Associated Proteins
Microtubules
Middle Aged
Middle East
Minichromosome Maintenance Proteins
Minority Groups
Mitochondria
Mitochondrial Diseases
Mitochondrial Encephalomyopathies
Mitochondrial Membrane Transport Proteins
Mitochondrial Membranes
Mitochondrial Proteins
Mitochondrial Proton-Translocating ATPases
Mitral Valve Insufficiency
Mobius Syndrome
Models, Animal
Models, Biological
Models, Genetic
Models, Immunological
Models, Molecular
Models, Statistical
Models, Theoretical
Molecular Biology
Molecular Chaperones
Molecular Conformation
Molecular Diagnostic Techniques
Molecular Epidemiology
Molecular Sequence Annotation
Molecular Sequence Data
Molecular Targeted Therapy
Molluscum Contagiosum
Monophenol Monooxygenase
Monosomy
Morphogenesis
Mosaicism
Mothers
Motor Neurons
Motor Skills
Movement Disorders
Mucopolysaccharidosis I
Mucous Membrane
Mullerian Ducts
Multifactorial Inheritance
Multigene Family
Multiprotein Complexes
Munc18 Proteins
Muscle Hypotonia
Muscle Proteins
Muscle Spasticity
Muscle Weakness
Muscle, Skeletal
Muscle, Smooth
Muscles
Muscular Atrophy
Muscular Atrophy, Spinal
Muscular Diseases
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Facioscapulohumeral
Musculoskeletal Abnormalities
Mutagenesis
Mutagenesis, Insertional
Mutagenesis, Site-Directed
Mutagenicity Tests
Mutagens
Mutant Proteins
Mutation
Mutation Rate
Mutation, Missense
Myalgia
Mycobacterium avium
Myelin P0 Protein
Myelin P2 Protein
Myelin Proteins
Myelin Proteolipid Protein
Myelin Sheath
Myeloid Differentiation Factor 88
Myeloid-Lymphoid Leukemia Protein
Myocardium
Myokymia
Myopia
Myosin Heavy Chains
Myosin-Light-Chain Kinase
Myosins
NADPH Oxidases
Nail-Patella Syndrome
Nasal Mucosa
National Institutes of Health (U.S.)
Natural Cytotoxicity Triggering Receptor 3
NAV1.1 Voltage-Gated Sodium Channel
NAV1.4 Voltage-Gated Sodium Channel
Neisseria meningitidis
Neonatal Screening
Neoplasm Proteins
Neoplasm Recurrence, Local
Neoplasms
Nerve Compression Syndromes
Nerve Degeneration
Nerve Fibers, Myelinated
Nerve Net
Nerve Regeneration
Nerve Tissue Proteins
Nervous System Diseases
Nervous System Malformations
Netherlands
Netrins
Neural Conduction
Neural Crest
Neural Stem Cells
Neural Tube Defects
Neuroaxonal Dystrophies
Neurodegenerative Diseases
Neurodevelopmental Disorders
Neurofibromatosis 1
Neurofibromin 1
Neurofilament Proteins
Neurogenesis
Neuroglia
Neuroimaging
Neurologic Examination
Neuromuscular Diseases
Neurons
Neuropsychological Tests
Neutropenia
Newfoundland and Labrador
Niacin
Night Blindness
NIH 3T3 Cells
Nitrogen
Nonsense Mediated mRNA Decay
North America
Nova Scotia
N-Terminal Acetyltransferase A
N-Terminal Acetyltransferase E
Nuclear Family
Nuclear Matrix-Associated Proteins
Nuclear Proteins
Nuclear Receptor Co-Repressor 1
Nucleic Acid Amplification Techniques
Nucleic Acid Conformation
Nucleic Acid Heteroduplexes
Nucleic Acid Hybridization
Nucleotide Motifs
Nucleotides
Nucleotidyltransferases
Obesity
Octamer Transcription Factor-6
Octamer Transcription Factors
Ocular Motility Disorders
Oculomotor Nerve Diseases
Odds Ratio
Olfaction Disorders
Oligodendroglia
Oligodeoxyribonucleotides
Oligonucleotide Array Sequence Analysis
Oligonucleotide Probes
Oligonucleotides
Oncogene Proteins
Open Reading Frames
Operon
Ophthalmoplegia
Optic Atrophies, Hereditary
Optic Atrophy
Optic Atrophy, Hereditary, Leber
Orbital Diseases
Organ Size
Organogenesis
Orofaciodigital Syndromes
Orthostatic Intolerance
Oryzias
Osmium Tetroxide
Osteochondrodysplasias
Osteogenesis Imperfecta
Osteomyelitis
Osteoporosis
Otx Transcription Factors
Ovarian Follicle
Oxidative Stress
Oxidoreductases
Paired Box Transcription Factors
Pakistan
Palate
Pan troglodytes
Papillomavirus Infections
Paralysis
Paraparesis, Spastic
Paraplegia
Parents
Parkinsonian Disorders
Patella
Paternal Inheritance
Pathology, Molecular
Patient Care
Patient Care Team
PAX2 Transcription Factor
PAX6 Transcription Factor
PAX8 Transcription Factor
Pedigree
Pelizaeus-Merzbacher Disease
Penetrance
Penicillin Resistance
Peptide Elongation Factors
Peptide Fragments
Peptide Hydrolases
Periodicals as Topic
Peripheral Nerves
Peripheral Nervous System
Peripheral Nervous System Diseases
Peroneal Nerve
Peroxidases
Persistent Fetal Circulation Syndrome
Personal Autonomy
Peru
Pharynx
Phenotype
Philadelphia Chromosome
Phosphatidylinositol 3-Kinases
Phosphatidylinositol Phosphates
Phosphoglucomutase
Phosphoinositide Phosphatases
Phosphoinositide Phospholipase C
Phospholipase C gamma
Phosphoprotein Phosphatases
Phosphoproteins
Phosphoric Diester Hydrolases
Phosphoric Monoester Hydrolases
Phosphorylation
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)
Photoreceptor Cells
Phylogeny
Physical Chromosome Mapping
Pigment Epithelium of Eye
Pigmentation Disorders
Pilot Projects
Pineal Gland
Pinealoma
Piperidines
Pituitary Gland
Pituitary Neoplasms
Plant Proteins
Plasmids
Plasmodium
Plasmodium falciparum
Point Mutation
Poland
Poly-ADP-Ribose Binding Proteins
Polydactyly
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Polymorphism, Single-Stranded Conformational
Polyneuropathies
Polysomnography
Population Surveillance
Posture
Prader-Willi Syndrome
Precision Medicine
Precursor Cells, B-Lymphoid
Predictive Value of Tests
Pregnancy
Pregnancy Complications, Infectious
Preimplantation Diagnosis
Prenatal Diagnosis
Prevalence
Primary Myelofibrosis
Primary Ovarian Insufficiency
Primates
Primed In Situ Labeling
Privacy
Probability
Progeria
Prognosis
Proline
Promoter Regions, Genetic
Proof of Concept Study
Proportional Hazards Models
Prosencephalon
Prospective Studies
Prostaglandins F
Proteasome Endopeptidase Complex
Protein Binding
Protein Biosynthesis
Protein Conformation
Protein Domains
Protein Folding
Protein Interaction Maps
Protein Isoforms
Protein Kinases
Protein Phosphatase 1
Protein Stability
Protein Structure, Secondary
Protein Structure, Tertiary
Protein Transport
Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases, Non-Receptor
Proteins
Protein-Tyrosine Kinases
Proteolipids
Proteolysis
Proteome
Proteomics
Proton-Translocating ATPases
Proto-Oncogene Proteins
Protozoan Proteins
Pseudogenes
Psychomotor Disorders
Psychomotor Performance
Psychotic Disorders
Psychotropic Drugs
PTEN Phosphohydrolase
Public Health
Puerto Rico
Pulmonary Alveoli
Pulmonary Veins
Qa-SNARE Proteins
Quadriplegia
Quantitative Trait Loci
Quantitative Trait, Heritable
R Factors
rab GTP-Binding Proteins
Rad51 Recombinase
Radiation Effects
Radiation, Ionizing
Radiography
Radiography, Abdominal
Radiography, Thoracic
Random Allocation
Rare Diseases
ras Proteins
Rats
Reaction Time
Real-Time Polymerase Chain Reaction
Rec A Recombinases
Receptor Tyrosine Kinase-like Orphan Receptors
Receptor, Fibroblast Growth Factor, Type 2
Receptor, Platelet-Derived Growth Factor beta
Receptors, Androgen
Receptors, Cell Surface
Receptors, Cytoplasmic and Nuclear
Receptors, G-Protein-Coupled
Receptors, Immunologic
Receptors, Interleukin
Receptors, Interleukin-7
Receptors, Lipoprotein
Receptors, Metabotropic Glutamate
Receptors, N-Methyl-D-Aspartate
Receptors, Notch
Receptors, Odorant
Receptors, Retinoic Acid
Receptors, Vascular Endothelial Growth Factor
Recombinant Fusion Proteins
Recombinant Proteins
Recombination, Genetic
RecQ Helicases
Recurrence
Reference Standards
Reference Values
Referral and Consultation
Reflex, Stretch
Refsum Disease
Registries
Regulatory Sequences, Nucleic Acid
Renal Insufficiency
Renin
Repetitive Sequences, Nucleic Acid
Replication Protein A
Repressor Proteins
Reproducibility of Results
Research
Respiratory System
Restriction Mapping
Retina
Retinal Cone Photoreceptor Cells
Retinal Degeneration
Retinal Diseases
Retinal Drusen
Retinal Rod Photoreceptor Cells
Retinaldehyde
Retinitis Pigmentosa
Retinoids
Retroelements
Retrospective Studies
Retroviridae
Rett Syndrome
Reverse Genetics
Reverse Transcriptase Polymerase Chain Reaction
RGS Proteins
Rhabdomyolysis
Rho Guanine Nucleotide Exchange Factors
rhoA GTP-Binding Protein
Rhodopsin
Ribonuclease III
Ribonucleoproteins, Small Nuclear
Ribosomal Proteins
Ribosomes
Ring Chromosomes
Risk
Risk Assessment
Risk Factors
Risperidone
RNA
RNA Helicases
RNA Interference
RNA Nucleotidyltransferases
RNA Processing, Post-Transcriptional
RNA Splice Sites
RNA Splicing
RNA, Bacterial
RNA, Messenger
RNA, Small Nuclear
RNA, Transfer
RNA-Binding Proteins
Rod Cell Outer Segment
Rod Opsins
Rubella
Running
Ryanodine Receptor Calcium Release Channel
S Phase
Saccharomyces cerevisiae
Saccharomyces cerevisiae Proteins
Salmonella enteritidis
Salmonella Phages
Salmonella typhimurium
Sampling Studies
Saudi Arabia
Schizophrenia
Schwann Cells
Sciatic Nerve
Scoliosis
Scotoma
Segmental Duplications, Genomic
Seizures
Selection, Genetic
Seminal Plasma Proteins
Sensitivity and Specificity
Sensory Receptor Cells
Sequence Alignment
Sequence Analysis, DNA
Sequence Deletion
Sequence Homology
Sequence Homology, Amino Acid
Sequence Homology, Nucleic Acid
Sequence Tagged Sites
Serine C-Palmitoyltransferase
Serine Endopeptidases
Serotyping
Serrate-Jagged Proteins
Severe Combined Immunodeficiency
Severity of Illness Index
Sex Characteristics
Sex Chromosome Aberrations
Sex Chromosome Disorders of Sex Development
Sex Chromosomes
Sex Differentiation
Sex Factors
Short Interspersed Nucleotide Elements
Short Stature Homeobox Protein
Siblings
Sigma Factor
Signal Transduction
Single-Cell Analysis
Sinoatrial Node
Sirolimus
Sister Chromatid Exchange
Situs Inversus
Sjogren's Syndrome
Skin
Skin Abnormalities
Sleep Apnea Syndromes
Sleep Disorders, Circadian Rhythm
Sleep Disorders, Intrinsic
Sleep Stages
Sleep Wake Disorders
Sleep, REM
Smad2 Protein
Smith-Magenis Syndrome
snRNP Core Proteins
Social Behavior
Social Dominance
Societies, Medical
Societies, Scientific
Sodium
Sodium Bicarbonate
Sodium-Bicarbonate Symporters
Sodium-Calcium Exchanger
Sodium-Potassium-Exchanging ATPase
Software
Solute Carrier Proteins
Somatic Hypermutation, Immunoglobulin
Sotos Syndrome
SOX9 Transcription Factor
SOXB1 Transcription Factors
SOXC Transcription Factors
SOXE Transcription Factors
Spain
Spasms, Infantile
Spastic Paraplegia, Hereditary
Spastin
Species Specificity
Speech Disorders
Spermatozoa
S-Phase Kinase-Associated Proteins
Spheroids, Cellular
Sphingomyelin Phosphodiesterase
Spine
Spinocerebellar Ataxias
Staphylococcal Infections
Staphylococcus aureus
Stem Cell Factor
Stem Cell Transplantation
Stem Cells
Sterol Regulatory Element Binding Protein 1
Stomach Neoplasms
Strabismus
Streptococcus pneumoniae
Structure-Activity Relationship
Sudden Infant Death
Sulfotransferases
Suppression, Genetic
Sural Nerve
Surveys and Questionnaires
Survival Rate
Switzerland
Sympathetic Fibers, Postganglionic
Symporters
Synaptic Transmission
Syndrome
Synteny
Tachycardia, Supraventricular
Talipes Cavus
Tandem Repeat Sequences
Tangier Disease
T-Box Domain Proteins
Telomere
Telomere Shortening
Temperature
Templates, Genetic
Tenascin
Terminal Repeat Sequences
Terminator Regions, Genetic
Testis
Tetracycline Resistance
Tetraspanins
Texas
Thigh
Threonine
Thymidine Phosphorylase
Tight Junctions
Tilt-Table Test
Time Factors
Tissue Distribution
T-Lymphocytes
T-Lymphocytes, Regulatory
TNF Receptor-Associated Factor 2
Tobacco Products
Toll-Like Receptor 7
Toll-Like Receptor 9
Tomography, Optical Coherence
Tomography, X-Ray Computed
Topoisomerase I Inhibitors
TOR Serine-Threonine Kinases
Trabecular Meshwork
Trans-Activators
Transcription Factor 4
Transcription Factors
Transcription, Genetic
Transcriptional Activation
Transcriptional Elongation Factors
Transcriptome
Transfection
Transfer RNA Aminoacylation
Transferases
Transforming Growth Factor beta
Translocation, Genetic
Transmembrane Activator and CAML Interactor Protein
Transposases
Transposition of Great Vessels
Treatment Outcome
Tremor
Triglycerides
Trinucleotide Repeat Expansion
Trinucleotide Repeats
Trisomy
Tropomyosin
Truncus Arteriosus, Persistent
Truth Disclosure
Tubulin
Tumor Suppressor Protein p53
Turkey
Twins, Dizygotic
Twins, Monozygotic
Tyrosine-tRNA Ligase
Ubiquitin
Ubiquitin Thiolesterase
Ubiquitin-Protein Ligases
Ulnar Nerve
Ultrasonography
Ultrasonography, Prenatal
Unfolded Protein Response
Uniparental Disomy
United States
Up-Regulation
Urinary Bladder
Urinary Tract
Urogenital Abnormalities
Uterus
Vaccination
Vagina
Valine-tRNA Ligase
Vascular Endothelial Growth Factor A
Ventricular Dysfunction, Left
Vesico-Ureteral Reflux
Vesicular Monoamine Transport Proteins
Vesicular Transport Proteins
Video Recording
Viremia
Virus Diseases
Vision Disorders
Vision Tests
Vision, Ocular
Visual Acuity
Visual Fields
Visual Perception
Vitamin B 12
Vitamin B 12 Deficiency
Vitamin B Complex
Vocal Cord Paralysis
Waardenburg Syndrome
White Matter
Whole Genome Sequencing
Williams Syndrome
Wiskott-Aldrich Syndrome Protein Family
Wnt Proteins
Wnt Signaling Pathway
Wnt-5a Protein
Wolffian Ducts
Wolff-Parkinson-White Syndrome
Workflow
X Chromosome
X Chromosome Inactivation
Xenopus
Xenopus laevis
Xenopus Proteins
Y Chromosome
Yeasts
Young Adult
Zebrafish
Zebrafish Proteins
Zika Virus
Zinc
Zinc Finger Protein GLI1
Zinc Fingers
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Concepts (1710)
Derived automatically from this person's publications.
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
DNA Copy Number Variations
Intellectual Disability
Genome, Human
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Co-Authors (247)
People in Profiles who have published with this person.
GIBBS, RICHARD
POSEY, JENNIFER
PEHLIVAN, DAVUT
STANKIEWICZ, PAWEL
MUZNY, DONNA
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People who are also in this person's primary department.
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IRA, GRZEGORZ
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