Lv1
76 积分 2022-06-14 加入
[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]
3天前
已关闭
Characteristics and Prognosis of Patients With Non‐Syndromic Sensorineural Hearing Loss Associated With Myo15a Mutations
9天前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
10天前
已完结
Long‐lasting autoimmune neutropenia and GFI1 variant: A case of familial inheritance
17天前
已完结
[Mutational analysis of patients with 6-pyruvoyltetrahydrobiopterin synthesis deficiency]
23天前
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
Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
1个月前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
1个月前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
1个月前
已完结
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