Keyphrases
Zebrafish
100%
Neurodevelopmental Disorders
55%
Developmental Delay
51%
Undiagnosed Diseases Network
50%
Intellectual Disability
46%
Missense Variants
45%
Genome Sequencing
31%
Pathogenic Variants
31%
Epilepsy
28%
Biallelic
25%
Exome Sequencing
23%
Oligodendrocyte
21%
Autosomal Dominant
20%
Neurodevelopmental Phenotypes
19%
Neurological Disorders
18%
Olig2
18%
Proband
17%
Hypotonia
17%
Biallelic Variants
16%
Gain-of-function mutation
16%
Neurodevelopmental Syndrome
16%
Rare Diseases
15%
Truncating Variant
15%
Drosophilidae
15%
Dysmorphism
14%
Seizure
14%
Spinal Cord
14%
Undiagnosed Diseases
13%
Transgenic Zebrafish
13%
Haploinsufficiency
13%
Vertebrates
12%
Oligodendrocyte Precursor Cells
12%
Dominant Negative
12%
Cerebellar Hypoplasia
12%
Cell Migration
12%
Notch Signaling
12%
Diagnostic Odyssey
11%
Syndromic Neurodevelopmental Disorder
11%
Phenotypic Spectrum
11%
Fibroblasts
11%
Forebrain
11%
WDR37
11%
FAR1
11%
Progressive Neurological Disease
11%
Coloboma
11%
Rare Disease Patients
11%
Clinical Site
11%
Neurological Manifestations
11%
Associated Disorders
11%
CACNA1C
11%
Biochemistry, Genetics and Molecular Biology
Zebra Fish
96%
Missense
73%
Intellectual Disability
65%
Genetics
47%
Genome Sequencing
41%
Proband
35%
Fibroblast
34%
Genomics
27%
Exome Sequencing
22%
Autosomal Dominant Inheritance
22%
Exon
21%
Allele
21%
Amino Acids
19%
Embryogenesis
19%
Haploinsufficiency
17%
Exome Sequencing
16%
RNA Sequence
16%
Chemokine
14%
Transgenic Zebrafish
14%
Germ Cell
13%
Germline
13%
Next Generation Sequencing
13%
Candidate Gene
13%
Orthology
12%
Cell Migration
11%
Transcription Factors
11%
Morphogenesis
11%
Kinase
11%
Phosphotransferase
11%
Mosaicism
11%
Cadherin
11%
Ether Lipid
11%
Cognition
11%
Chemokine Receptor
11%
Golgi Apparatus
11%
Rare Variant
11%
Messenger RNA
10%
Wnt Signaling Pathway
10%
Gene Expression
10%
Gastrulation
10%
Cell Proliferation
10%
Actin
10%
Serine
9%
Dynamics
9%
Penetrance
8%
Human Genetics
8%
Binding Protein
8%
RNA
8%
Frizzled
8%
Promoter Region
8%
