Lv2
160 积分 2021-12-28 加入
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
3天前
已完结
[Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--SEA/α90-92(AGCTTCGG)α]]
11天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
12天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
12天前
已完结
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family
2个月前
已完结
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss
3个月前
已完结
Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population
6个月前
已完结
AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases
7个月前
已关闭
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