Lv1
60 积分 2023-08-02 加入
A misleading presentation of Mohr–Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
1个月前
已关闭
MED12 Loss‐of‐Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability
1个月前
已完结
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
2个月前
已完结
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China
3个月前
已完结
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China]
6个月前
已完结
Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ4-3-Oxosteroid-5β-Reductase Deficiency
2年前
已完结
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