Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing

Molecular and Cellular Probes - Tập 29 - Trang 299-307 - 2015
C. Knopp1, S. Rudnik-Schöneborn1, T. Eggermann1, C. Bergmann1,2, M. Begemann1, K. Schoner3, K. Zerres1, N. Ortiz Brüchle1
1Institute of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, 52074, Aachen, Germany
2Center for Human Genetics, Bioscientia, Konrad-Adenauer-Straße 17, 55218, Ingelheim, Germany
3Institute of Pathology, UKGM University Hospital Marburg, Baldingerstraße, 35043, Marburg, Germany

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