Neuronal migration genes and a familial translocation t(3;17): which genes are implicated in the phenotype?
Compound heterozygous LPIN2 pathogenic variants in a Majeed Syndrome patient with recurrent fever and severe neutropenia: case report
Association of PD-1 polymorphisms with the risk and prognosis of lung adenocarcinoma in the northeastern Chinese Han population
Exome sequencing identified two novel COL10A1 heterozygous mutations in two irregular dominance Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia
No relationship between dopamine D3 receptor gene Ser9Gly polymorphism (rs6280) and schizophrenia: a meta-analysis of family-based association studies
Is the COL5A1 rs12722 polymorphism associated with muscle stiffness and sports-related muscle injury?
A novel pathogenic variant of IHH for Brachydactyly type A1
GUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1
In depth analysis of the association of FTO SNP (rs9939609) with expression of the classical phenotype of PCOS: a Sri Lankan study