Lv3
350 积分 2025-05-01 加入
Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework
2天前
已完结
Comparison of Magnetic Resonance Imaging and Endoscopic Ultrasound in the Sizing of Intraductal Papillary Mucinous Neoplasia of the Pancreas
9天前
已完结
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
9天前
已完结
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
12天前
已完结
RAD51 and Infertility: A Review and Case-Control Study
14天前
已完结
Werner syndrome due to homozygous WRN mutation through chromosome 8 region of homozygosity in a consanguineous family
26天前
已关闭
Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review
1个月前
已完结
Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants
1个月前
已完结
New diagnosis of late onset combined immune deficiency in an adult with associated 16p13.3 duplication syndrome
1个月前
已完结