Lv1
66 积分 2022-06-14 加入
[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness]
2天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
9天前
已完结
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
12天前
已完结
[Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene]
20天前
已关闭
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
26天前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
27天前
已完结
Long‐lasting autoimmune neutropenia and GFI1 variant: A case of familial inheritance
1个月前
已完结
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]
1个月前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
1个月前
已完结
Genotypic and phenotypic characteristics of juvenile/adult onset vanishing white matter: a series of 14 Chinese patients
1个月前
已完结
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