Lv5
1472 积分 2024-01-07 加入
Germline predispositions to myeloid malignancies: Across the lifespan
2天前
已完结
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome
15天前
已完结
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
15天前
已完结
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
15天前
已完结
Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families
1个月前
已完结
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
1个月前
已完结
Successful cord blood transplantation using reduced intensity conditioning in a 5‐month‐old patient with IL‐10RA deficiency
1个月前
已完结
Spectrum ofRB1mutations identified in 403 retinoblastoma patients
2个月前
已完结
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3‐Related Spinocerebellar Ataxia
3个月前
已完结
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic
3个月前
已完结
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
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