Lv2
150 积分 2023-09-19 加入
Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase
1天前
已完结
Myoclonus–dystonia
5天前
已完结
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes
7天前
已完结
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups
21天前
已完结
Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis
1个月前
已完结
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter
1个月前
已关闭
Case report of a 21-year-old woman with Gabriele-de Vries syndrome and autoimmune hypothyroidism
1个月前
已完结
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter
1个月前
已关闭
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
1个月前
已完结
UHRF1 promotes renal cell carcinoma progression through epigenetic regulation of TXNIP
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