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Gerarda Cappuccio
Concepts (344)
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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.
Abnormalities, Multiple
Adaptor Protein Complex sigma Subunits
Adenosine Triphosphatases
Adolescent
Adult
Agammaglobulinemia
Age Distribution
Age of Onset
Aged
Aged, 80 and over
Agenesis of Corpus Callosum
Alleles
Amino Acid Sequence
Amino Acyl-tRNA Synthetases
Analysis of Variance
Angiotensin II Type 1 Receptor Blockers
Animals
Aortic Valve Insufficiency
Arginine-tRNA Ligase
Arnold-Chiari Malformation
Arthrogryposis
Autism Spectrum Disorder
Autistic Disorder
Autophagosomes
Basic Helix-Loop-Helix Transcription Factors
Beckwith-Wiedemann Syndrome
Biomarkers
Blepharophimosis
Brain
Brain Chemistry
Brain Diseases
Brain Diseases, Metabolic, Inborn
Brain Neoplasms
Breast Neoplasms
Buttocks
Carbohydrate Metabolism, Inborn Errors
Case-Control Studies
CCCTC-Binding Factor
Cell Differentiation
Cell Lineage
Cells, Cultured
Cerebellum
Charcot-Marie-Tooth Disease
Child
Child, Preschool
Chromosomal Proteins, Non-Histone
Chromosome Aberrations
Chromosome Banding
Chromosome Breakage
Chromosome Deletion
Chromosome Disorders
Chromosome Duplication
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 16
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 9
Chromosomes, Human, X
Class I Phosphatidylinositol 3-Kinases
Cleavage And Polyadenylation Specificity Factor
Codon, Nonsense
Cohort Studies
Collagen Type I
Comorbidity
Comparative Genomic Hybridization
Congenital Abnormalities
Contracture
Core Binding Factor Alpha 2 Subunit
CpG Islands
Craniofacial Abnormalities
Cross-Sectional Studies
Cryptorchidism
Cyclin D2
Cytogenetic Analysis
Cytosol
DEAD-box RNA Helicases
Deafness
Developmental Disabilities
Diagnosis, Differential
Diet, Ketogenic
Diffusion Tensor Imaging
DiGeorge Syndrome
Disease Models, Animal
Disease Progression
DNA
DNA Copy Number Variations
DNA Helicases
DNA Methylation
DNA Mutational Analysis
DNA, Intergenic
DNA, Mitochondrial
DNA-Binding Proteins
DNA-Directed RNA Polymerases
Drug Resistant Epilepsy
Dystonin
E1A-Associated p300 Protein
Ehlers-Danlos Syndrome
Electroencephalography
Endoplasmic Reticulum
Endoplasmic Reticulum-Associated Degradation
Energy Metabolism
Enzyme Inhibitors
Epigenesis, Genetic
Epilepsy
Epileptic Syndromes
Evolution, Molecular
Exons
Eye Abnormalities
Face
Facies
Family
Fatty Acids
Female
Fibroblasts
Fibrosis
Fingers
Folic Acid Deficiency
Follow-Up Studies
Foot Deformities, Congenital
Forkhead Transcription Factors
Frameshift Mutation
Fused Kidney
Gain of Function Mutation
Gait
GATA3 Transcription Factor
Gene Deletion
Gene Duplication
Gene Expression
Gene Expression Profiling
Gene Frequency
Gene Rearrangement
Gene Silencing
Genetic Association Studies
Genetic Diseases, X-Linked
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Genetics, Population
Genotype
Growth Disorders
GTP Phosphohydrolases
GTP-Binding Protein alpha Subunits, Gi-Go
GTP-Binding Proteins
Hand Deformities, Congenital
Haploinsufficiency
Hearing Loss, Sensorineural
Heart Defects, Congenital
Heart Diseases
Heart Septal Defects, Ventricular
HEK293 Cells
HeLa Cells
Hematologic Diseases
Hereditary Central Nervous System Demyelinating Diseases
Heterogeneous-Nuclear Ribonucleoprotein U
Heterozygote
High-Throughput Nucleotide Sequencing
Histocompatibility Antigens
Histone Acetyltransferases
Histone-Lysine N-Methyltransferase
Histones
Homeodomain Proteins
Homocystinuria
Homozygote
Hospitals, University
Humans
Hydrocephalus
Hyperplasia
Hypoglycemia
Hypoparathyroidism
Hypotrichosis
I-kappa B Kinase
In Situ Hybridization, Fluorescence
Incidence
Incontinentia Pigmenti
Induced Pluripotent Stem Cells
Infant
Infant, Newborn
Inositol
Inositol 1,4,5-Trisphosphate Receptors
Intellectual Disability
International Agencies
Intestinal Atresia
Isoenzymes
Italy
Joint Instability
KCNQ3 Potassium Channel
Klippel-Trenaunay-Weber Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Language Development Disorders
Leber Congenital Amaurosis
Limb Deformities, Congenital
Lipoblastoma
Lipodystrophy
Liver
Loeys-Dietz Syndrome
Losartan
Loss of Function Mutation
Lower Extremity
Lung
Lysine-tRNA Ligase
Lysosomes
Magnetic Resonance Imaging
Male
Malformations of Cortical Development
Mass Spectrometry
Membrane Glycoproteins
Meningocele
Mental Disorders
Mental Retardation, X-Linked
Metabolomics
Methyl-CpG-Binding Protein 2
Methylenetetrahydrofolate Reductase (NADPH2)
Mice
Mice, Knockout
Microcephaly
Microfilament Proteins
Micrognathism
Middle Aged
Migraine with Aura
Minor Histocompatibility Antigens
Mitochondria
Mitochondrial Proteins
Mitosis
Mitral Valve Insufficiency
Models, Molecular
Molecular Imaging
Monocarboxylic Acid Transporters
Monosaccharide Transport Proteins
Monosomy
Multiple Sulfatase Deficiency Disease
Muscle Hypotonia
Muscle Spasticity
Muscular Atrophy
Muscular Diseases
Musculoskeletal Abnormalities
Mutation
Mutation, Missense
Myelodysplastic Syndromes
Myoclonic Epilepsies, Progressive
NAD
Neck
Neoplasm Proteins
Nephrosis
Nerve Tissue Proteins
Nervous System Diseases
Nervous System Malformations
Neural Crest
Neurodevelopmental Disorders
Neurologic Examination
Nicotinamide-Nucleotide Adenylyltransferase
Nuclear Proteins
Obesity
Organisms, Genetically Modified
Organoids
Osteochondrodysplasias
p120 GTPase Activating Protein
Pain
Pedigree
Phenotype
Phosphatidylinositol 3-Kinases
Pilot Projects
Poly-ADP-Ribose Binding Proteins
Polydactyly
Polymicrogyria
Polymorphism, Single Nucleotide
POU Domain Factors
Pregnancy
Prognosis
Prosencephalon
Protein Stability
Proteins
Pseudogenes
Psychotic Disorders
Pupil Disorders
Quality of Life
Receptor, Notch3
Receptors, N-Methyl-D-Aspartate
Repressor Proteins
Reproducibility of Results
Retina
Retinal Degeneration
Retrospective Studies
Rett Syndrome
Risk Assessment
RNA Helicases
RNA Recognition Motif Proteins
RNA Splicing
RNA, Messenger
RNA-Binding Proteins
Rubinstein-Taybi Syndrome
Saccharomyces cerevisiae
Seizures
Sequence Deletion
Serine
Severity of Illness Index
Sex Distribution
Signal Transduction
Skin
Skin Abnormalities
Skin Diseases
SKP Cullin F-Box Protein Ligases
Sleep Wake Disorders
Smad4 Protein
Sodium-Potassium-Exchanging ATPase
Spasms, Infantile
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Sphingomyelin Phosphodiesterase
Spine
Spinocerebellar Ataxias
Statistics, Nonparametric
Sterol Esterase
Sulfatases
Surveys and Questionnaires
Survival Rate
Symporters
Syndrome
Syringomyelia
Tetralogy of Fallot
Thigh
Transcription Factors
Transcription Factors, TFII
Transcription, Genetic
Transcriptional Elongation Factors
Transforming Growth Factor beta2
Translocation, Genetic
Treatment Outcome
Tricuspid Valve Insufficiency
Triiodothyronine
Trisomy
Ubiquitin-Conjugating Enzymes
Ubiquitin-Protein Ligases
United States
Urogenital Abnormalities
Vacuolar Proton-Translocating ATPases
Vascular Malformations
Vestibular Diseases
Williams Syndrome
Wolf-Hirschhorn Syndrome
Wolman Disease
Young Adult
Zebrafish
Cappuccio's Networks
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Concepts (344)
Derived automatically from this person's publications.
Intellectual Disability
Phenotype
Abnormalities, Multiple
Neurodevelopmental Disorders
Hand Deformities, Congenital
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Co-Authors (23)
People in Profiles who have published with this person.
ELSEA, SARAH
MALETIC-SAVATIC, MIRJANA
Osenberg, Sivan
Mendonca, Danielle
SUTTON, VERNON
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Similar People (60)
People who share similar concepts with this person.
LUPSKI, JAMES
GIBBS, RICHARD
STANKIEWICZ, PAWEL
ELSEA, SARAH
ZOGHBI, HUDA
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Same Department
People who are also in this person's primary department.
Chung, Dah-eun
Kumar, Deepak
Long, Ye
McColl, Eliza
Sun, Xiaoying
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