过去一年中添加的文章，按日期排序
… ‐guided exome‐first study in a consanguineous cohort with early‐onset retinal disease uncovers an isolated RIMS2 phenotype and a retina‐enriched RIMS2 isoform
M Del Pozo‐Valero, B Almoallem… - … Genetics, 2024 - Wiley Online Library
58 天前 - … Leber Congenital Amaurosis (LCA) and early-onset … Three different variants in CRB1
were found in 3 families, … in the GUCY2D gene in compound heterozygous state, for which …
were found in 3 families, … in the GUCY2D gene in compound heterozygous state, for which …