Lv11
30 积分 2023-03-31 加入
Mutation analysis and prenatal diagnosis of MYO7A gene in a case of Usher syndrome type 1
5小时前
待确认
[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis]
4天前
已完结
Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations
12天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases. Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
22天前
已完结
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
29天前
已关闭
Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
29天前
已完结
Genetic analysis of two patients with Gitelman syndrome
1个月前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
1个月前
已完结
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes
1个月前
已完结
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