Lv51
1502 积分 2024-01-07 加入
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis
2小时前
待确认
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]
21天前
已完结
Germline predispositions to myeloid malignancies: Across the lifespan
2个月前
已完结
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome
2个月前
已完结
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
2个月前
已完结
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
2个月前
已完结
Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families
3个月前
已完结
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
3个月前
已完结
Successful cord blood transplantation using reduced intensity conditioning in a 5‐month‐old patient with IL‐10RA deficiency
3个月前
已完结
Spectrum ofRB1mutations identified in 403 retinoblastoma patients
4个月前
已完结
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
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