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308 积分 2024-06-13 加入
Prenatal Phenotype of Kabuki Syndrome: Seven Case Series
1天前
已完结
Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome
1天前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
17天前
已完结
Alström syndrome: Two clinical cases with two novel pathogenic variants
22天前
已完结
A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients
23天前
已关闭
Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry
24天前
已完结
Genomic technologies and the diagnosis of 46, XY differences of sex development
28天前
已完结
The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development
28天前
已完结
Clinical and laboratory studies on 28 patients with glutaric aciduria type 1
29天前
已完结
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
1个月前
已完结
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