Lv31
378 积分 2024-03-11 加入
Genetic background of selected hyperuricemia causing gout with pediatric onset
7天前
已完结
Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance
17天前
已完结
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
17天前
已完结
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
17天前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
20天前
已完结
A novel DHTKD1 gene mutation with ALS like presentation: a case report
22天前
已完结
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 Deletions
1个月前
已完结
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression
1个月前
已关闭
Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort
1个月前
已关闭
Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT : 31 Pediatric Patients and 16 Novel Variants
2个月前
已关闭
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