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Capillary sequencing

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

Geeta Madathil Govindaraj, Abhinav Jain, Geetha Peethambaran, Rahul C. Bhoyar, Shamsudheen Karuthedath Vellarikkal, Arvind Ganapati, Pulukool Sandhya, Athulya Edavazhippurath, Dhananjayan Dhanasooraj, Jayakrishnan Machinary Puthenpurayil, Krishnan Chakkiyar, Anushree Mishra, Arushi Batra, Anu Punnen, Sathish Kumar, Sridhar Sivasubbu, Vinod Scaria

published 21 Aug 2020

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Development of a High-Throughput Resequencing Array for the Detection of Pathogenic Mutations in Osteogenesis Imperfecta

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

published 05 Mar 2015

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Exome Sequencing of a Multigenerational Human Pedigree

Dale Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A. Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T. Harkins, Stephan Züchner

published 14 Dec 2009

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High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, Ryan Davis, Jeffrey P. Gregg, Jennifer Kuzdenyi, Ricardo A. Maselli

published 19 Sep 2007

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