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Molecular Genetics and Metabolism Reports|April 14, 2020
Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndromeShahram Yazdani, Anish Badjatiya, Naghmeh Dorrani, et al.Journal of Translational Medicine|August 12, 2015
Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypesRoger V Lebo, Robert W Novak, Katherine Wolfe, et al.Mechanisms of Development|June 7, 2002
Arginase expression in mouse embryonic developmentHong Yu, Ramaswamy K Iyer, Paul K Yoo, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 11, 2014
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratorySamuel P Strom, Hane Lee, Kingshuk Das, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 14, 2003
Estimated analytic validity of HFE C282Y mutation testing in population screening: the potential value of confirmatory testingGlenn E Palomaki, James E Haddow, Linda A Bradley, et al.Molecular Genetics and Metabolism|September 7, 2010
An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiencyFabiola Quintero-Rivera, Joshua L Deignan, Jane Peredo, et al.The Journal of Molecular Diagnostics : JMD|April 29, 2005
A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular geneticsMichael Jarvis, Ramaswamy K Iyer, Laurina O Williams, et al.Digestive Diseases and Sciences|February 22, 2019
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 VariantNoam Jacob, Sonya S Dasharathy, Viet Bui, et al.International Journal of Oncology|January 19, 2008
Expression of arginase II in prostate cancerShannon M Mumenthaler, Hong Yu, Sheila Tze, et al.Clinical Case Reports|June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromesSureni V Mullegama, Phillip Jensik, Chen Li, et al.Pageof 11