Lv7
5000 积分 2024-05-06 加入
Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy
1天前
待确认
Mitochondrial aminoacyl-tRNA synthetases in human disease
3天前
已完结
Genetics and mechanisms leading to human cortical malformations
7天前
已完结
Rapid functional RNA Analysis via amniocyte transdifferentiation resolves prenatal variant ambiguity in fetal akinesia syndrome
18天前
已完结
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population
19天前
已完结
Natural history of Ullrich congenital muscular dystrophy
23天前
已完结
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper
1个月前
已完结
Prenatal Diagnosis of Arthrogryposis Multiplex Congenita (AMC): Ultrasound and Genetic Findings in 69 Fetuses From 67 Unrelated Families
1个月前
已完结
46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review
2个月前
已完结
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
3个月前
已完结
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