Lv63
1647 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
6小时前
求助中
Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
1天前
已完结
Normal breast tissues harbour rare populations of aneuploid epithelial cells
1天前
已完结
线粒体DNA耗竭综合征12例临床表型及基因型特点
2天前
已完结
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi‐Bickel Syndrome
4天前
已完结
Building a molecular reference map of the human embryo
7天前
已完结
Brca1 haploinsufficiency promotes early tumor onset and epigenetic alterations in a mouse model of hereditary breast cancer
7天前
已完结
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
8天前
已完结
The Role of Double Heterozygotes of SLC3A1 and SLC7A9 in the Prevalence of Cystine Stones
8天前
已完结
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation
11天前
已完结
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