Keyphrases
Pakistani
72%
Microcephaly
70%
Pakistani Population
66%
CSMD1
50%
Novel mutation
50%
Adolescent Idiopathic Scoliosis
50%
Speech Impairment
50%
Consanguineous
50%
Dopamine D2 Receptor (DRD2)
50%
NPHP3
50%
VANGL1
50%
Eyebrow
50%
CACNA1C
50%
Laurin-Sandrow Syndrome
50%
GRM3
50%
Planar Cell Polarity
50%
Nephronophthisis
50%
Primary Microcephaly
50%
Microduplication
50%
Pakistani Family
50%
Regulatory Sequence
50%
In-frame mutation
50%
MiR-137
50%
Risk Variant
50%
Grebes
50%
Brachydactyly Type C
50%
Preaxial Polydactyly
50%
Novel Point mutations
50%
Triphalangeal Thumb
50%
Sonic Hedgehog
50%
Schizophrenia Risk
50%
Genetic Heterogeneity
50%
Familial Epilepsy
50%
Duplication
38%
Allele Frequency
25%
Schizophrenia
25%
Genotype Frequency
25%
MCPH1
25%
Healthy Controls
25%
Fibula
21%
Mirror Image
21%
Moderate to Severe
21%
Autosomal Recessive Primary Microcephaly
20%
Hyperechogenic Kidneys
16%
Rare Presentation
16%
Patient Cohort
16%
LTBP1
15%
Biochemistry, Genetics and Molecular Biology
Regulatory Sequence
100%
Sonic Hedgehog
70%
Compound Heterozygosity
50%
Point Mutation
50%
Adolescence
50%
Binding Affinity
50%
WDR62
50%
Batten Disease
50%
CLN3
50%
Transcription Factor
50%
Neuronal Ceroid Lipofuscinosis
50%
Enhancer Region
50%
GDF5
50%
Cell Polarity
50%
Consanguinity
33%
Diagnostic and Statistical Manual of Mental Disorders
25%
STXBP1
25%
KCNA2
25%
Genetics
20%
CENPJ
16%
LTBP2
15%
Medicine and Dentistry
Batten Disease
50%
Adolescent Idiopathic Scoliosis
50%
Cell Polarity
50%
Ciliopathy
50%
Nephronophthisis
50%
Asymptomatic Carrier
25%
Amino Acid
16%
