Lv5
1430 积分 2022-07-11 加入
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene
3天前
已完结
Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation
5天前
已完结
Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study
17天前
已关闭
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration
23天前
已完结
Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3-related hypotrichosis with juvenile macular dystrophy
1个月前
已完结
SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review
3个月前
已完结
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
4个月前
已完结
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
4个月前
已完结
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis
4个月前
已完结
Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL – experience from Slovakia
4个月前
已完结
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