Lv3
220 积分 2021-12-20 加入
Ocular Findings and Treatment of a Young Boy With Coats’ Plus
4小时前
已关闭
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay
7天前
已完结
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
7天前
已完结
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
8天前
已关闭
A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy
12天前
已完结
Hereditary nonpolyposis colorectal cancer (HNPCC): Eight novel germline mutations in hMSH2 or hMLH1 genes
19天前
已完结
[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation]
19天前
已关闭
Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer
20天前
已关闭
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants
22天前
已完结
Exceptional Response of Pancreatic Acinar Cell Carcinoma and Bile Duct Cancer to Platinum-Based Chemotherapy in a Family With a Germline BRCA2 Variant
24天前
已完结
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