Lv22
120 积分 2026-04-13 加入
Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type
5小时前
待确认
Novel and recurrent hemizygous variants in BCORL1 cause oligoasthenoteratozoospermia by interfering transcription
6小时前
已完结
Seminoma Caused by PDE11A Frameshift Variant with Multiple Abnormalities: A Case Report
1天前
已完结
Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants
1天前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
4天前
已完结
Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review
5天前
已完结
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia
5天前
已完结
Successful Second CBT for Graft Failure After First CBT for Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Type 3: A Case Report
5天前
已完结
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes
7天前
已完结
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population
10天前
已完结
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