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84 积分 2024-06-12 加入
[Analysis of three Chinese pedigrees affected with Genetic epilepsy with febrile seizures plus due to variants of SCN1A gene]
12小时前
待确认
Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China
13天前
已关闭
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
1个月前
已关闭
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism
1个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
1个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies
1个月前
已完结
Congenital Hypogonadotropic Hypogonadism Caused by Prokineticin Receptor 2 Rare Sequence Variants: Molecular Genetics, Clinical Phenotypes and Therapeutic Outcomes From a Single-center Cohort
1个月前
已关闭
Wiskott-Aldrich syndrome protein expression in female WAS carriers: A flow cytometry study from North India
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
2个月前
已完结
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