Lv11
44 积分 2024-06-12 加入
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
11天前
已完结
Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex
13天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
13天前
已完结
Adolescent-onset hyperhomocysteinaemia: cases report and literature review
21天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
21天前
已完结
A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review
22天前
已关闭
Dravet Syndrome: An Electroclinical, Genetic, Treatment, and Outcome Study of 35 Patients in Argentina
29天前
已完结
Managing Rabson – Mendenhall Syndrome: A Case Report
1个月前
已关闭
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
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