Keyphrases
Developmental Delay
88%
Gain-of-function mutation
75%
Pathogenic Variants
69%
Mendelian Disorders
63%
Neurodevelopmental Disorders
63%
Intellectual Disability
63%
Dysmorphic Features
53%
Whole Exome Sequencing
49%
DNA Methylation Analysis
46%
Neurological Manifestations
42%
Associated Disorders
42%
Phenotypic Expansion
42%
Epigenomics
42%
CACNA1C
42%
Genetic Disease
31%
Hypotonia
31%
Epilepsy
30%
Microcephaly
28%
Autism
27%
Clinical Course
24%
Duplication
24%
Neurodevelopment
24%
Rare Cause
24%
Functional Studies
24%
Missense Variants
24%
Whole Genome Sequencing
23%
Genetic Testing
23%
Eukaryotic Translation Initiation Factor 5A (eIF5A)
21%
Medical Genetics
21%
ABCB11
21%
Failure Feature
21%
Author Names
21%
PTPN4
21%
MT-TW
21%
Germline Susceptibility
21%
Molybdenum Cofactor Deficiency
21%
Neurodegenerative Diseases
21%
Xanthinuria
21%
Congenital Malformation Syndrome
21%
TNRC6B
21%
Hyperactivity Disorder
21%
Chromodomain Helicase DNA-binding Proteins
21%
Management Considerations
21%
Pediatric Diseases
21%
Germline Variants
21%
Premature Infant
21%
Neurobehavioral Phenotype
21%
Early Onset
21%
Intrahepatic Cholestasis
21%
2q24
21%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Intellectual Disability
95%
Exome Sequencing
89%
Missense
70%
Genetic Disorder
49%
Epigenomics
42%
DNA Methylation
42%
Germ Cell
42%
Germline
42%
Epigenetics
42%
Proband
36%
Whole Genome Sequencing
34%
Autosomal Dominant Inheritance
31%
RNA
25%
Autosomal Recessive Inheritance
24%
Nerve Cell Differentiation
24%
Genetic Screening
23%
Haploinsufficiency
22%
Timothy Syndrome
21%
HMGB1
21%
Helicase
21%
Nonsense-Mediated Decay
21%
Medical Genetics
21%
GATA Zinc Finger
21%
ABCB11
21%
RNA Sequence
21%
Protein Tyrosine Phosphatase
21%
Chromodomain
21%
Molybdenum Cofactor
21%
Zinc Finger Motif
21%
Dysplasia
21%
Wilms' Tumor
21%
Blood Brain Barrier
21%
Mechanistic Target of Rapamycin
21%
DNA-binding Protein
21%
Tamsulosin
21%
Long QT Syndrome
21%
Transfer RNA
21%
Proline
21%
Tryptophan
21%
Circadian Rhythm
21%
Choline
21%
Dilatation
21%
Allele
17%
Orthology
16%
Methylation
14%
Gain of Function Mutation
14%
Low Drug Dose
14%
Adrenarche
14%
Patch Clamp
12%
Medicine and Dentistry
Diseases
29%
Dysmorphic Feature
26%
Intractable Epilepsy
24%
Disease
24%
Cholestasis
21%
Sickle-Cell Disease
21%
Complex Congenital Heart Disease
21%
Prematurity
21%
Secondary Hyperparathyroidism
21%
Pediatrics
21%
Medicine
21%
Allele
21%
Bone Dysplasia
21%
Drug Resistant Epilepsy
21%
Aneurysm
21%
Placental Pathology
21%
Cardiovascular System
21%
Intrahepatic Cholestasis
21%
Glycogen Storage Disease Type II
21%
I-Cell Disease
21%
Bile Salt Export Pump
21%
Case Management
21%
Neurologic Finding
21%
Molybdenum Cofactor
21%
Xanthinuria
21%
Rapamycin
21%
Circadian Rhythm
21%
Lysosomal Storage Disease
17%
Hypotonia
17%
Neonatal Infant
14%
Glycosaminoglycan
14%
Exome Sequencing
14%
Skeleton Malformation
14%
Storage Disease
14%
Epileptic Seizure
13%
Developmental Delay
13%
Mechanistic Target of Rapamycin
12%
Limb Malformation
10%
Congenital Malformation
10%
Face Malformation
10%
Liver Biopsy
10%
Autosomal Recessive Inheritance
10%
Endocrine Disease
10%
Genetic Analysis
10%
Progressive Familial Intrahepatic Cholestasis
10%
Cell Transformation
10%
Gain of Function Mutation
8%
Low Drug Dose
8%
Thorax Radiography
7%
Alpha Chain
7%