Keyphrases
Clinical Phenotype
100%
Intellectual Disability
70%
Neurodevelopmental Disorders
70%
Duplication
60%
Photosystem II
60%
Growth Retardation
42%
Truncating Variant
42%
ASXL2
40%
NSD1
40%
Microcephaly
40%
TANGO2
40%
Pathogenic Variants
40%
Antibody Titer
40%
Clinical Spectrum
40%
Developmental Delay
39%
Enzyme Replacement Therapy
39%
Dysmorphic Features
32%
Infusion Reaction
30%
Founder Variant
22%
Ashkenazi Jews
22%
Congenital Anomalies
22%
Developmental Disabilities
22%
Common Cause
22%
Gain-of-function mutation
22%
EFL1
20%
Shwachman-Diamond
20%
High Dose
20%
Gaucher Disease
20%
Childhood Obesity
20%
Human Genetics
20%
Primary γ′
20%
CDKL5
20%
Gamma-sarcoglycanopathy
20%
Fibulin-4
20%
Wnt Signaling
20%
Genistein Aglycone
20%
Pediatric Patients
20%
Cutis Laxa
20%
Genetic Variants
20%
Hajdu-Cheney Syndrome
20%
MYH10
20%
DDX3X
20%
Gender-specific Effects
20%
Heterozygous Missense Variant
20%
Treatment-naïve
20%
Genistein
20%
Central Nervous System
20%
Glucosylsphingosine
20%
Cyclophilin B
20%
Home Infusion Therapy
20%
Biochemistry, Genetics and Molecular Biology
Mental Retardation
75%
Exome Sequencing
58%
NSD1
40%
Genetics
33%
Missense
32%
Body Height
30%
Genetic Divergence
30%
Glutamic Acid
30%
Copy-Number Variation
23%
Proband
22%
Proline
22%
Hedgehog Signaling Pathway
20%
WDR5
20%
Human Genetics
20%
SBDS
20%
Cilium
20%
Attitude
20%
Autosomal Recessive Inheritance
20%
Prevalence
20%
Newborn Screening
20%
CDKL5
20%
Genetic Screening
20%
ASXL1
20%
Shwachman-Diamond Syndrome
20%
Phospholipase D1
20%
GNB3
20%
Mouse Model
20%
Osteolysis
20%
Wnt Signaling Pathway
20%
Congenital Disorder of Glycosylation
20%
Intravenous Immunoglobulin
20%
Transaminase
20%
Gaucher's Disease
20%
Cyclophilin
20%
Cis-Trans Isomerase
20%
Bone Development
20%
Microdeletion Syndrome
20%
Lysine
20%
G Protein
18%
Autosomal Dominant Inheritance
16%
Germline
15%
Germ Cell
15%
Histone
15%
Eukaryotic Initiation Factor
15%
C-Terminus
15%
Signaling Protein
13%
MYH9
13%
Demethylation
13%
Methylation
13%
Embryogenesis
13%
