Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ies J Nijman"'
Autor:
Ies J Nijman, Wigard P. Kloosterman, Mark van Roosmalen, Magdalena Harakalova, Rachel H. Giles, Carolien G.F. de Kovel, Gijs van Haaften, Karen Duran, Nine V A M Knoers, Hester Y. Kroes, Bert van der Zwaag, Glen R. Monroe
Publikováno v:
EJHG, 24(2), 214-220. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics
Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efd11d8828c702d788ff0fb87ebf3437
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272
https://research.rug.nl/en/publications/01daa816-81eb-4be5-a3b7-183021192272
Autor:
Stefan Sleijfer, Christa G Gadellaa-van Hooijdonk, Marco J. Koudijs, Emile E. Voest, Stefan M. Willems, John W. J. Hinrichs, Edwin Cuppen, Wendy W.J. de Leng, Robert D. Loberg, Neeltje Steeghs, Ies J Nijman, Marlies H.G. Langenberg, Martijn P. Lolkema, Roel A. de Weger, Stef van Lieshout, Françoise A. S. Barendregt-Smouter, Maja J.A. de Jonge
Publikováno v:
PLoS One (print), 11(2):e0149405. Public Library of Science
PLoS ONE [E], 11(2). Public Library of Science
PLoS ONE, Vol 11, Iss 2, p e0149405 (2016)
PLoS ONE
PLoS ONE [E], 11(2). Public Library of Science
PLoS ONE, Vol 11, Iss 2, p e0149405 (2016)
PLoS ONE
textabstractBackground Targeted Next Generation Sequencing (NGS) offers a way to implement testing of multiple genetic aberrations in diagnostic pathology practice, which is necessary for personalized cancer treatment. However, no standards regarding
Autor:
Ernie M.H.F. Bongers, Marijn Stokman, Kirsten Y. Renkema, Heleen H. Arts, Niels Geijsen, Rachel H. Giles, Erik-Jan Kamsteeg, Ies J Nijman, Edwin Cuppen, Machteld M. Oud, N.C.A.J. van de Kar, Nine V A M Knoers, Christian Gilissen, Hester Y. Kroes, Marc R. Lilien, J. van Reeuwijk, Ronald Roepman
Publikováno v:
Cilia
Cilia, 4, 2530-2534
Cilia, 4, 1, pp. 2530-2534
Cilia, 4, 2530-2534
Cilia, 4, 1, pp. 2530-2534
Objective Nephronophthisis is an autosomal recessive renal ciliopathy that constitutes the leading monogenic cause of end-stage renal disease in children. The KOUNCIL consortium is a collaboration between the UMC Utrecht, the Radboud UMC Nijmegen and
Autor:
Ivo Renkens, Stef van Lieshout, Marc C van Tuil, Paulien A Terhal, Karen Duran, Raoul C.M. Hennekam, Hans Kristian Ploos van Amstel, Edwin Cuppen, Gijs van Haaften, Ies J Nijman, Nine V A M Knoers, Carolien G.F. de Kovel, Marie-José H. van den Boogaard, Magdalena Harakalova, Richard J. Sinke, Wigard P. Kloosterman, Mieke M. van Haelst
Publikováno v:
Journal of Medical Genetics, 49(8), 539-543. BMJ Publishing Group
Journal of Medical Genetics, 49(8), 539-43. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 49(8), 539-543. BMJ PUBLISHING GROUP
Harakalova, M, van den Boogaard, M-J, Sinke, R, van Lieshout, S, van Tuil, M C, Duran, K, Renkens, I, Terhal, P A, de Kovel, C, Nijman, I J, van Haelst, M, Knoers, N V A M, van Haaften, G, Kloosterman, W, Hennekam, R C M, Cuppen, E & Ploos van Amstel, H K 2012, ' X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face ', Journal of Medical Genetics, vol. 49, no. 8, pp. 539-43 . https://doi.org/10.1136/jmedgenet-2012-100921
Journal of medical genetics, 49(8), 539-543. BMJ Publishing Group
Journal of Medical Genetics, 49(8), 539-43. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 49(8), 539-543. BMJ PUBLISHING GROUP
Harakalova, M, van den Boogaard, M-J, Sinke, R, van Lieshout, S, van Tuil, M C, Duran, K, Renkens, I, Terhal, P A, de Kovel, C, Nijman, I J, van Haelst, M, Knoers, N V A M, van Haaften, G, Kloosterman, W, Hennekam, R C M, Cuppen, E & Ploos van Amstel, H K 2012, ' X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face ', Journal of Medical Genetics, vol. 49, no. 8, pp. 539-43 . https://doi.org/10.1136/jmedgenet-2012-100921
Journal of medical genetics, 49(8), 539-543. BMJ Publishing Group
BACKGROUND: We present a large Dutch family with seven males affected by a novel syndrome of X-linked intellectual disability, hypogonadism, gynaecomastia, truncal obesity, short stature and recognisable craniofacial manifestations resembling but not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc81bece02620f02af598f2d1ae576b4
https://pure.knaw.nl/portal/en/publications/f84654a7-5a45-4aa4-a293-189d5ac3ef79
https://pure.knaw.nl/portal/en/publications/f84654a7-5a45-4aa4-a293-189d5ac3ef79
Autor:
Mark Verheul, Gert Vriend, B Vroling, Edwin Cuppen, Victor Guryev, Coos Baakman, H van Roekel, Pim W. Toonen, Ies J Nijman, R van Boxtel
Publikováno v:
Pharmacogenomics Journal, 11, 5, pp. 326-326
Pharmacogenomics Journal, 11(5), 326-336. Nature Publishing Group
Pharmacogenomics Journal, 11, 326-326
The Pharmacogenomics Journal
Pharmacogenomics Journal, 11(5), 326-336. Nature Publishing Group
Pharmacogenomics Journal, 11, 326-326
The Pharmacogenomics Journal
G-protein-coupled receptors (GPCRs) constitute a large family of cell surface receptors that are involved in a wide range of physiological and pathological processes, and are targets for many therapeutic interventions. However, genetic models in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3595745b3d911b198e581bd4ae805c6f
https://hdl.handle.net/2066/92398
https://hdl.handle.net/2066/92398