Lv51
1290 积分 2023-12-13 加入
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
6天前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
20天前
已完结
ISCN 2020
1个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
4个月前
已关闭
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
4个月前
已完结
Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults
4个月前
已完结
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants
4个月前
已完结
A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing
5个月前
已完结
Duchenne Muscular Dystrophy Gene Therapy
5个月前
已完结
Diversity of ARSACS Mutations in French-Canadians
5个月前
已关闭
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