Concepts (211)
Concepts are derived automatically from a person's publications.
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.
- 1,4-alpha-Glucan Branching Enzyme
- Abnormalities, Multiple
- Actins
- Adenosine Triphosphate
- Adolescent
- Adult
- Algorithms
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Amino Acid Substitution
- Amino Acids
- Anal Canal
- Animals
- Antiporters
- Arginine
- Aromatic-L-Amino-Acid Decarboxylases
- Autism Spectrum Disorder
- Base Sequence
- Blotting, Western
- Bone Marrow Transplantation
- Brain
- Caenorhabditis elegans
- Calcium Channels
- Calcium Channels, L-Type
- Calcium-Binding Proteins
- Carbidopa
- Cardiovascular Abnormalities
- Carnitine
- Carrier Proteins
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Choanal Atresia
- Chromosomal Proteins, Non-Histone
- Chromosome Aberrations
- Chromosome Breakage
- Chromosome Deletion
- Chromosome Disorders
- Chromosome Duplication
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 19
- Chromosomes, Human, Pair 22
- Chromosomes, Human, Pair 5
- Cohort Studies
- Colon
- Comparative Genomic Hybridization
- Congenital Abnormalities
- Consanguinity
- Costello Syndrome
- Counselors
- Craniofacial Abnormalities
- Craniosynostoses
- Critical Care
- Cutis Laxa
- Developmental Disabilities
- Diagnosis, Differential
- Disease Management
- DNA Copy Number Variations
- DNA Mutational Analysis
- DNA, Mitochondrial
- DNA-Binding Proteins
- Dopamine
- Dopamine Agonists
- Down Syndrome
- Drug Combinations
- Ductus Arteriosus, Patent
- Ectodermal Dysplasia
- Edetic Acid
- Electron Transport
- Epileptic Syndromes
- Esophagus
- Exome
- Exons
- Facies
- Failure to Thrive
- Fanconi Anemia
- Fanconi Anemia Complementation Group Proteins
- Fatal Outcome
- Female
- Ferredoxins
- Fetal Growth Retardation
- Fibroblasts
- Follow-Up Studies
- Gene Deletion
- Gene Duplication
- Gene Rearrangement
- Genes, Developmental
- Genes, X-Linked
- Genetic Association Studies
- Genetic Carrier Screening
- Genetic Counseling
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genetic Testing
- Genome, Human
- Genomics
- Genotype
- Germ-Line Mutation
- Glycogen Storage Disease Type IV
- Gonadal Dysgenesis, 46,XY
- Growth Disorders
- Hand Deformities, Congenital
- Haploinsufficiency
| - Health Personnel
- Heart Defects, Congenital
- Hematopoietic Stem Cell Transplantation
- Heterogeneous-Nuclear Ribonucleoprotein U
- High-Throughput Nucleotide Sequencing
- Humans
- Hydrogen Peroxide
- Hypertrichosis
- Infant
- Infant Care
- Infant, Newborn
- Inpatients
- Intellectual Disability
- Intensive Care Units, Pediatric
- Intestinal Pseudo-Obstruction
- Iron
- Iron-Sulfur Proteins
- Kidney
- Language Development Disorders
- Learning
- Length of Stay
- Levodopa
- Limb Deformities, Congenital
- Male
- MAP Kinase Kinase 2
- MAP Kinase Signaling System
- Membrane Potential, Mitochondrial
- Membrane Proteins
- Metabolic Networks and Pathways
- Metabolism, Inborn Errors
- Metabolomics
- Mice
- Micrognathism
- Mitochondria
- Mitochondrial Membranes
- Mitochondrial Proteins
- Mitogen-Activated Protein Kinase Kinases
- Mitogen-Activated Protein Kinases
- Models, Genetic
- Molecular Diagnostic Techniques
- Molecular Sequence Data
- Mononuclear Phagocyte System
- Muscle Hypotonia
- Muscle Weakness
- Musculoskeletal Abnormalities
- Mutagenesis
- Mutation
- Mutation, Missense
- Myelin Proteins
- Myopathies, Nemaline
- NAV1.4 Voltage-Gated Sodium Channel
- Neoplasms
- Neurodevelopmental Disorders
- Noonan Syndrome
- Nucleic Acid Hybridization
- Oligonucleotide Array Sequence Analysis
- Oncogene Protein p21(ras)
- Optic Atrophy
- Oxidative Stress
- Oxidoreductases
- Parents
- Pedigree
- Phenotype
- Phosphoproteins
- Practice Guidelines as Topic
- Precision Medicine
- Pregnancy
- Prenatal Diagnosis
- Primary Myelofibrosis
- Progeria
- Prognosis
- Rare Diseases
- ras Proteins
- Receptors, Glycine
- Recombination, Genetic
- Reproduction
- Retrospective Studies
- Seizures
- Sequence Analysis, DNA
- Sequence Deletion
- Sequence Homology, Amino Acid
- Severity of Illness Index
- Signal Transduction
- Smith-Magenis Syndrome
- Spasms, Infantile
- Spine
- Sulfite Reductase (Ferredoxin)
- Surveys and Questionnaires
- Syndrome
- Texas
- Trachea
- Trans-Activators
- Transcription Factors
- Transition to Adult Care
- Tumor Necrosis Factor Receptor-Associated Peptides and Proteins
- Ubiquitin Thiolesterase
- Ubiquitin-Protein Ligases
- United States
- Urinary Bladder
- Vanilmandelic Acid
- Vesicular Transport Proteins
- Whole Genome Sequencing
- Writing
- X Chromosome Inactivation
- Young Adult
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Concepts
(211)
Derived automatically from this person's publications.
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(61)
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(60)
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