Lv66
2420 积分 2023-12-05 加入
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
2天前
已完结
Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis
2天前
已完结
Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young
3天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
8天前
已完结
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis
9天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
10天前
已完结
[Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy]
11天前
已完结
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
14天前
已关闭
Genomic Landscape of Sporadic Retinitis Pigmentosa
15天前
已完结
Hereditary coproporphyria: report of an Irish kindred and identification of a novel gene mutation
16天前
已关闭
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