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140 积分 2024-11-21 加入
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
19天前
已完结
Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China
22天前
已完结
Hereditary pancreatitis with a N29I mutation in the PRSS1 (Trypsinogen) gene: A case report from India
1个月前
已完结
Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report
2个月前
已完结
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies
3个月前
已完结
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing
3个月前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet-Biedl syndrome
3个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
4个月前
已完结
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature
4个月前
已完结
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