Associated Papers
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
Fernández A et al.
Pigment Cell & Melanoma Research, 2021
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.
Mohammed M et al.
European Journal of Medical Genetics, 2019
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