Sort   by:  
 Page size 
UnknownA novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.
Not available
S-EPMC10404504 | biostudies-literature
UnknownA novel deletion mutation in EPM2A underlies progressive myoclonic epilepsy (Lafora body disease) in a Pakistani family.
Not available
S-EPMC8562703 | biostudies-literature
UnknownIdentification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Not available
S-EPMC7385404 | biostudies-literature
UnknownDFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.
Not available
S-EPMC3312604 | biostudies-literature
UnknownNovel <i>KIAA0825</i> Variants Underlie Nonsyndromic Postaxial Polydactyly.
Not available
S-EPMC12469399 | biostudies-literature
Sort   by:  
 Page size