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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, [ ... ], Vinod Scaria

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

Yao Wang, Yazhou Cui, Xiaoyan Zhou, Jinxiang Han

Exome Sequencing of a Multigenerational Human Pedigree

Dale Hedges, Dan Burges, [ ... ], Stephan Züchner

High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, [ ... ], Ricardo A. Maselli

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