Keyphrases
Pakistani Family
100%
Consanguineous
100%
Speech Impairment
100%
Novel mutation
100%
Eyebrow
100%
Primary Microcephaly
100%
Microcephaly
40%
Exon
20%
Severe Intellectual Disability
20%
Short Stature
20%
Phenotypic Spectrum
20%
Normal Development
20%
Whole Exome Sequencing
20%
Centrosome
20%
Proband
20%
Being Known
20%
Pakistani
20%
Truncated Protein
20%
Fetal Brain
20%
Clinical Variability
20%
Nonsense-mediated Decay
20%
Golgi Apparatus
20%
Premature Stop Codon
20%
Centrosomal Proteins
20%
Duplication
20%
Frameshift
20%
Clinical Description
20%
Biallelic mutations
20%
Moderate to Severe
20%
Neuroscience
Microcephaly
100%
Nonsense Mediated mRNA Decay
25%
Exome Sequencing
25%
Stop Codon
25%
Centrosome
25%
Exon
25%
C-Terminus
25%
Biochemistry, Genetics and Molecular Biology
Body Height
20%
Exome Sequencing
20%
Nonsense-Mediated Decay
20%
Development
20%
Proband
20%
Exon
20%
Golgi Apparatus
20%
Intellectual Disability
20%
C-Terminus
20%
Stop Codon
20%
Gene Linkage
20%
Centrosome
20%