Lv11
46 积分 2023-06-28 加入
A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation
8小时前
待确认
ICIEM Abstracts
10天前
已完结
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
24天前
已完结
Neuronal Ceroid Lipofuscinosis Owing to Complete Maternal Uniparental Disomy
28天前
已完结
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes
29天前
已关闭
Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome
2个月前
已完结
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
3个月前
已关闭
Thoracic Insufficiency Syndrome and Exotic Scoliosis
3个月前
已完结
Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib
3个月前
已关闭
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
4个月前
已关闭
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