Lv2
138 积分 2023-06-28 加入
Characterization of Novel Splicing Mutations and a Recurrent Deletion in COLQ Congenital Myasthenic Syndrome
1个月前
已完结
Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis
1个月前
已关闭
Thoracic Insufficiency Syndrome and Exotic Scoliosis
1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
1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
2个月前
已关闭
A novel inherited CARD9 deficiency in an otherwise healthy woman with CNS candidiasis
2个月前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
3个月前
已完结
Late-onset cerebellar ataxia and a new frameshift L2HGDH mutation in a Chinese adult with L-2-hydroxyglutaric aciduria: a case report
3个月前
已完结
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
3个月前
已关闭
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent
3个月前
已完结
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