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pro vyhledávání: '"Gayatri Koppolu"'
Autor:
Neelam Saini, Vijaya Sree Venkatapuram, Venugopal Satidevi Vineeth, Aditya Kulkarni, Ashwani Tandon, Gayatri Koppolu, Siddaramappa Jagdish Patil, Ashwin Dalal, Shagun Aggarwal
Publikováno v:
Prenatal Diagnosis. 42:911-926
Exome sequencing (ES)-based diagnosis of Mendelian diseases in the fetus is limited by paucity of phenotypic information. This study reports the comprehensive phenotypes of some fetuses with Mendelian disorders.Next generation technology-based sequen