Lv7
4970 积分 2024-05-06 加入
Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population
19小时前
待确认
Natural history of Ullrich congenital muscular dystrophy
4天前
已完结
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper
28天前
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
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations
3个月前
已完结
Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series
3个月前
已完结
Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia
3个月前
已完结
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia
3个月前
已完结
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