Lv211
198 积分 2025-08-06 加入
SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1
13分钟前
待确认
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
1天前
已完结
Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases
2天前
已完结
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
8天前
已完结
PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore
9天前
已关闭
PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore
15天前
已关闭
Germline mutations of the putative tumor suppressor gene PTEN/MMAC1 as molecular biomarker in prostate cancer
16天前
已完结
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
17天前
已完结
Pulmonary arteriovenous malformations leading to hypoxemia in child with primary ciliary dyskinesia
18天前
已完结
Identification of a novel IQCE variant in a Korean patient with nonsyndromic postaxial polydactyly
18天前
已完结
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