Lv62
1720 积分 2023-12-13 加入
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
28天前
已完结
[Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]
1个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
1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
1个月前
已完结
Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations
3个月前
已完结
[Expert consensus on the prenatal diagnosis and genetic counseling for uniparental disomy-related imprinting disorders]
4个月前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
5个月前
已完结
ISCN 2020
5个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
8个月前
已关闭
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
8个月前
已完结
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