Lv21
190 积分 2021-12-28 加入
Alport syndrome. Molecular genetic aspects
1小时前
求助中
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
1个月前
已关闭
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
1个月前
已完结
[Genetic testing and pedigree analysis for a case with intermediate α-thalassemia[--SEA/α90-92(AGCTTCGG)α]]
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
2个月前
已完结
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family
4个月前
已完结
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss
5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
8个月前
已完结
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