Lv7
4920 积分 2024-05-06 加入
Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper
16天前
已完结
Prenatal Diagnosis of Arthrogryposis Multiplex Congenita (AMC): Ultrasound and Genetic Findings in 69 Fetuses From 67 Unrelated Families
23天前
已完结
46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review
1个月前
已完结
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
2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
Focal Brain Malformations: A Spectrum of Disorders along the mTOR Cascade
3个月前
已完结
mTOR: A pathogenic signaling pathway in developmental brain malformations
3个月前
已完结
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