Associated Papers
Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review.
Baris S et al.
International Journal of Molecular Sciences, 2026
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Investigating the effects of copy number variants on reading and language performance.
Gialluisi A et al.
Journal of Neurodevelopmental Disorders, 2016
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