The Variability of Genetic Disease
Author:
Publisher
Massachusetts Medical Society
Subject
General Medicine
Link
http://www.nejm.org/doi/pdf/10.1056/NEJMe1209699
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The phenotype of 15 cases with rare 8q24.13‐q24.3 deletions–A new syndrome or still an enigma?;American Journal of Medical Genetics Part A;2021-02-22
2. Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting;Acta Obstetricia et Gynecologica Scandinavica;2020-10-15
3. Array-Comparative Genomic Hybridization/Microarray Analysis: Interpretation of Copy Number Variants;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
5. Genetic biomarkers in aortopathy;Biomarkers in Medicine;2013-08
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