Lv51
1063 积分 2021-04-29 加入
遗传领域，NGS，生信，儿童肿瘤
Barriers and facilitators to implementing clinical genome-wide sequencing: A scoping review of the global landscape
54分钟前
求助中
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene Association
2小时前
求助中
UBTF Haploinsufficiency‐Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt
1天前
已完结
Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
2天前
求助中
Points to consider for the next-generation-sequencing-based detection of copy-number abnormalities (CNAs) and balanced chromosomal rearrangements in neoplastic disorders: A statement of the American College of Medical Genetics and Genomics (ACMG)
2天前
求助中
Reply: USP25 in genetic generalized epilepsy: a gene under scrutiny
2天前
已完结
USP25 in genetic generalized epilepsy: a gene under scrutiny
2天前
求助中
Incorporation of genomic determinants improves diagnostic accuracy of oligomonocytic chronic myelomonocytic leukemia
6天前
已关闭
Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss
8天前
已关闭
What do we mean by actionability? Examining a key criterion in genomic prenatal and newborn screening
8天前
已完结
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