Keyphrases
Phenotypic Spectrum
49%
Sequence Analysis
39%
Balanced Chromosomal Rearrangements
39%
Epileptic Encephalopathy
39%
Sequence Assembly
29%
Assembly Programs
29%
Hypomorphic mutation
29%
Novel mutation
29%
Speech Impairment
29%
Consanguineous
29%
Primary Microcephaly
29%
Febrile Seizures
29%
Myosin Chaperone
29%
Human Chromosomes
29%
Lens Development
29%
Pakistani Family
29%
Expression Analysis
29%
Juvenile Cataract
29%
Chromosome 20
29%
Epigenetic Dysregulation
29%
Biparental Inheritance
29%
Midline Cervical Cleft
29%
Epigenetic Remodeling
29%
Paroxysmal Kinesigenic Dyskinesia
29%
Shotgun Assembly
29%
Eyebrow
29%
Genetic Studies
29%
Congenital Anosmia
29%
GPI-anchored Protein (GPI-AP)
29%
Benign Familial Infantile Epilepsy
29%
SCN8A mutation
29%
Anosmia
29%
Infantile Convulsions
22%
Non-coding RNA (ncRNA)
22%
Paroxysmal Choreoathetosis
22%
Seizure Onset
19%
Seizure Type
19%
Focal Seizures
19%
Hypotonia
19%
Seizure
19%
High-throughput Sequencing
17%
Moderate to Severe
15%
Biochemistry, Genetics and Molecular Biology
Genetics
100%
Exome Sequencing
95%
Array Comparative Genomic Hybridization
59%
Genomics
49%
Chromosomal Rearrangement
47%
Epigenetics
39%
Intellectual Disability
35%
Non-Coding RNA
35%
Wild Type
30%
Smelling
29%
Autosomal Dominant Inheritance
29%
Cyclic Nucleotide
29%
Autosomal Recessive Inheritance
29%
Cadherin
29%
Signal Transduction
29%
Cyclic Nucleotide-Gated Ion Channel
29%
Chromosome 20 (Human)
29%
Magnetism
29%
Expression Analysis
29%
Myosin
29%
Brain Development
29%
Infancy
29%
Monozygotic Twin
29%
Interferon
29%
Protein Interaction
29%
Glycosylphosphatidylinositol
29%
Chromosomal Abnormalities
29%
SCN8A
29%
CpG Island
25%
Human Genome
19%
Proband
16%
