Madhuri Hegde

2 ta ish

Emory University

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

   Sue Richards, Nazneen Aziz, Sherri J. Bale +9

   Maqola20159 iqtibos

   ABIABI:AkademIndex/2026.other.382633

2. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

   U. Schwarze, Tim Cundy, Shawna M. Pyott +35

   MaqolaOAOchiq kirish20122 iqtibos

   ABIABI:AkademIndex/2026.other.036794