Lv34
348 积分 2024-08-06 加入
NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest
1天前
待确认
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion
1天前
已完结
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect
1天前
已完结
Clinical presentation and follow-up of women affected by Brugada syndrome
7天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
27天前
已完结
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
1个月前
已完结
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
1个月前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
1个月前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
1个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
1个月前
已完结
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