Zobrazeno 1 - 6
of 6
pro vyhledávání: '"van Kuilenburg, André BP"'
Autor:
Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, Ludger
Publikováno v:
Orphanet journal of rare diseases 9(1), 24 (2014). doi:10.1186/1750-1172-9-24
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 9(1). BioMed Central
Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 9(1). BioMed Central
Orphanet Journal of Rare Diseases; Vol 9
Background X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e9b6095e529d2908902c29fe01c5cb03
Autor:
Lines, Matthew A, Ito, Yoko, Kernohan, Kristin D, Mears, Wendy, Hurteau-Miller, Julie, Venkateswaran, Sunita, Ward, Leanne, Khatchadourian, Karine, McClintock, Jeff, Bhola, Priya, Campeau, Philippe M, Boycott, Kym M, Michaud, Jean, van Kuilenburg, André BP, Ferdinandusse, Sacha, Dyment, David A
Publikováno v:
European Journal of Human Genetics: EJHG; September 2017, Vol. 25 Issue: 9 p1049-1054, 6p
Autor:
Al-Maawali, Almundher, Dupuis, Lucie, Blaser, Susan, Heon, Elise, Tarnopolsky, Mark, Al-Murshedi, Fathiya, Marshall, Christian R, Paton, Tara, Scherer, Stephen W, Roelofsen, Jeroen, van Kuilenburg, André BP, Mendoza-Londono, Roberto
Publikováno v:
European Journal of Human Genetics; Mar2015, Vol. 23 Issue 3, p310-316, 7p
Autor:
Sistonen, Johanna, Büchel, Barbara, Froehlich, Tanja K, Kummer, Dominic, Fontana, Stefano, Joerger, Markus, van Kuilenburg, André BP, Largiadèr, Carlo R
Publikováno v:
Pharmacogenomics; Oct2014, Vol. 15 Issue 13, p1653-1666, 14p
Autor:
van Kuilenburg AB; Academic Medical Center, University of Amsterdam, Emma Children's Hospital & Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, F0-220, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl, Maring JG
Publikováno v:
Pharmacogenomics [Pharmacogenomics] 2013 May; Vol. 14 (7), pp. 799-811.
Autor:
Becquemont L; Univ Paris-Sud, Faculty of Medicine Paris-Sud, Pharmacology Department, Assistance Publique Hôpitaux de Paris, Hôpital Bicêtre, Le Kremlin Bicêtre, France. laurent.becquemont@bct.aphp.fr, Alfirevic A, Amstutz U, Brauch H, Jacqz-Aigrain E, Laurent-Puig P, Molina MA, Niemi M, Schwab M, Somogyi AA, Thervet E, Maitland-van der Zee AH, van Kuilenburg AB, van Schaik RH, Verstuyft C, Wadelius M, Daly AK
Publikováno v:
Pharmacogenomics [Pharmacogenomics] 2011 Jan; Vol. 12 (1), pp. 113-24.