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10.1016/j.clp.2015.03.001 http://scihub22266oqcxt.onion/10.1016/j.clp.2015.03.001 C4459515!4459515!26042902     free     free     free       Clin+Perinatol 2015 ; 42 (2): 227-42 Nephropedia Template TP {{tp|p=26042902|t=2015. CNVs, Aneuploidies and Human Disease |pdf=|usr=}}{{26042902}} gab.com Text CNVs, Aneuploidies and Human Disease JO: Clin Perinatol http://www.kidney.de/pget.php?&tw=1&pmid=26042902 #FOAvip In the perinatal setting, chromosome imbalances cause a wide range of clinically significant disorders and increase risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), we are learning the significant role that these types of genomic variants play in human disease and their relatively high frequency in ~1% of all pregnancies. In this overview, we will highlight key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Since CNVs are one of the most frequent causes of a broad spectrum of human disorders, early diagnosis and accurate interpretation is important to implement timely interventions and targeted clinical management. Twit Text FOAVip CNVs, Aneuploidies and Human Disease ????Clin Perinatol http://www.kidney.de/pget.php?&tw=1&pmid=26042902 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26042902 #FOAvip English Wikipedia <ref>{{Cite pmid|26042902}}</ref> CNVs, Aneuploidies and Human Disease #MMPMID26042902 Martin CL; Kirkpatrick BE; Ledbetter DH Clin Perinatol 2015[Jun]; 42 (2): 227-42 PMID26042902show ga In the perinatal setting, chromosome imbalances cause a wide range of clinically significant disorders and increase risk for other particular phenotypes. As technologies have improved to detect increasingly smaller deletions and duplications, collectively referred to as copy number variants (CNVs), we are learning the significant role that these types of genomic variants play in human disease and their relatively high frequency in ~1% of all pregnancies. In this overview, we will highlight key aspects of CNV detection and interpretation used during the course of clinical care in the prenatal and neonatal periods. Since CNVs are one of the most frequent causes of a broad spectrum of human disorders, early diagnosis and accurate interpretation is important to implement timely interventions and targeted clinical management. äCNVs, Aneuploidies and Human Disease (epmc).pdf DeepDyve Pubget Overpricing