Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alwin Rikken"'
Autor:
Alwin Rikken, Bart van Lier, Dimitra Zafeiropoulou, Alexander Hoischen, Ivo B J F Adan, Ronny Derks, Marcel R. Nelen, Stijn M M Bertens, Kornelia Neveling, Djie Tjwan Thung, Marloes Steehouwer, Michael Kwint, Jay Shendure, Hicham Ouchene, Evan A. Boyle, Arjen R. Mensenkamp, Jayne Y. Hehir-Kwa, Stefan H. Lelieveld, Tomasz Stokowy, Steven Castelein, Tom Hofste, Per M. Knappskog, Astrid Eijkelenboom, Beth Martin, Ermanno A.J. Bosgoed, Vidar M. Steen, Helger G. Yntema, Marjolijn J. L. Ligtenberg, Bastiaan B J Tops, Hildegunn Høberg-Vetti, Marloes Tychon
Publikováno v:
Clinical Chemistry, 63, 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
Clinical Chemistry, 63(2), 503-512. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 63, 2, pp. 503-512
BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based single gene tests for diagnostic purposes require improvements in terms of completeness, quality, speed, and cost. Single-molecule molecular inversion probes (smMIPs) are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff362a16b1977a0fc949eda67975675
https://doi.org/10.1373/clinchem.2016.263897
https://doi.org/10.1373/clinchem.2016.263897
Autor:
Arjen R. Mensenkamp, Alwin Rikken, Bart van Lier, Kornelia Neveling, Marloes Tychon, Ronald A. van Soest, Ermanno A.J. Bosgoed, Ronny Derks, Hans Scheffer, Adinda Diekstra, Marcel R. Nelen, Erik-Jan Kamsteeg
Publikováno v:
Clinical Chemistry, 61, 1, pp. 154-62
Clinical Chemistry, 61, 154-62
Clinical Chemistry, 61, 154-62
BACKGROUND Dideoxy-based chain termination sequencing developed by Sanger is the gold standard sequencing approach and allows clinical diagnostics of disorders with relatively low genetic heterogeneity. Recently, new next generation sequencing (NGS)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a1f6baf681a1182791a85a75b54f88
https://doi.org/10.1373/clinchem.2014.225250
https://doi.org/10.1373/clinchem.2014.225250
Autor:
Marco Tartaglia, Willy M. Nillesen, Michael A. Patton, Esther M. Maier, Ineke van der Burgt, Erik A. Sistermans, Kees Noordam, Marjolijn C.J. Jongmans, Rienk Y. J. Tamminga, Alwin Rikken
Publikováno v:
Jongmans, M, Sistermans, E A, Rikken, A, Nillesen, W M, Tamminga, R, Patton, M, Maier, E M, Tartaglia, M, Noordam, K & Van Der Burgt, I 2005, ' Genotypic and phenotypic characterization of Noonan syndrome : New data and review of the literature ', American Journal of Medical Genetics, vol. 134 A, no. 2, pp. 165-170 . https://doi.org/10.1002/ajmg.a.30598
Noonan syndrome (NS) is an autosomal dominant disorder, characterized by short stature, minor facial anomalies, and congenital heart defects. In approximately 50% of cases the condition is caused by missense mutations in the PTPN11 gene on chromosome