Lv13
20 积分 2025-04-14 加入
Evaluation of genotype–phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome
1天前
已完结
Effect of Cochlear Implantation on Hearing Fluctuation in Patients with Biallelic <b><i>SLC26A4</i></b> Variants
1天前
已完结
Two Chinese Families with Pendred’s Syndrome—Radiological Imaging of the Ear and Molecular Analysis of the Pendrin Gene
1天前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
1天前
已完结
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
2天前
已完结
Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis
2天前
已完结
Molecular characterization of a series of 990 index patients with albinism
11天前
已完结
Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency
12天前
已完结
Successful pregnancy and childbirth without metabolic abnormality in a patient with holocarboxylase synthetase deficiency
12天前
已完结
A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency
12天前
已完结
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