Lv2
200 积分 2023-09-08 加入
SIMPLE mutation analysis in dominant demyelinating Charcot‐Marie‐Tooth disease: three novel mutations
8天前
已完结
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease
8天前
已完结
Low-Pass Genome Sequencing
15天前
已完结
Genome sequencing in the prenatal diagnosis of structural malformations in the fetus
19天前
已完结
New Mutations Causing the Premature Termination of Translation in the A Subunit Gene of Coagulation Factor XIII
29天前
已关闭
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients
1个月前
已完结
Neurology of the cryopyrin‐associated periodic fever syndrome
1个月前
已完结
Prenatal Diagnosis and Novel Therapeutics in Treatment of Genetic Conditions: Challenges and Opportunities
1个月前
已完结
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
1个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
1个月前
已完结
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