Lv47
528 积分 2025-05-19 加入
A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia
14小时前
待确认
Assessment of rare bleeding disorders in adolescents with heavy menstrual bleeding
22小时前
待确认
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients
3天前
已完结
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study
3天前
已完结
Clinical and genetic features of sitosterolemia in Japan
4天前
已完结
Novel mutations in TRIP13 lead to female infertility with oocyte maturation arrest
5天前
已完结
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation
5天前
已完结
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
5天前
已关闭
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans
6天前
已完结
Tumor mutational burden and efficacy of chemotherapy in lung cancer
7天前
已完结
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