Lv4
650 积分 2024-09-03 加入
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report
21天前
已完结
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities
23天前
已关闭
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation
2个月前
已完结
Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (– –SEA/) Deletion
5个月前
已完结
Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex® technique
11个月前
已完结
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
1年前
已完结
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
1年前
已完结
Twenty-Four Novel Mutations in Wilson Disease Patients of Predominantly Italian Origin
1年前
已完结
Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review
1年前
已完结
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
1年前
已完结
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