Lv11
98 积分 2023-06-28 加入
Thoracic Insufficiency Syndrome and Exotic Scoliosis
5小时前
待确认
Management of Thoracic Insufficiency Syndrome in Patients With Jeune Syndrome Using the 70 mm Radius Vertical Expandable Prosthetic Titanium Rib
6小时前
已关闭
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
28天前
已关闭
A novel inherited CARD9 deficiency in an otherwise healthy woman with CNS candidiasis
1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
1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
1个月前
已完结
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
1个月前
已关闭
Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent
1个月前
已完结
Impact of a SLC24A5 variant on the retinal pigment epithelium of a Japanese patient with oculocutaneous albinism type 6
1个月前
已完结
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
1个月前
已完结
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