Lv313
228 积分 2025-08-06 加入
Severe congenital neutropenia with a novel ELANE mutation in 2 Mexican patients
3天前
已完结
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia
3天前
已完结
A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia
7天前
已完结
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study
15天前
已完结
Clinical and molecular spectrum of primary hyperoxaluria type 1 in Tunisia: pediatric presentation and minimum observed prevalence
15天前
已完结
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
16天前
已关闭
Novel ABCD1 Variants in X-Linked Adrenoleukodystrophy
16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
18天前
已完结
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study
21天前
已完结
Germline pathogenic variants identified in women with ovarian tumors
24天前
已完结
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