Zobrazeno 1 - 10
of 109
pro vyhledávání: '"van Kraaij S"'
Autor:
van Kraaij S; Centre for Human Drug Research, Leiden, Netherlands., Goeldner RG; Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Rosenbrock H; Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Groeneveld GJ; Centre for Human Drug Research, Leiden, Netherlands., Kremer P; Centre for Human Drug Research, Leiden, Netherlands., Schaible J; Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Zambori J; Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany., Schultheis C; Boehringer Ingelheim Pharma GmbH & Co. KG, Biberach an der Riss, Germany.
Publikováno v:
British journal of clinical pharmacology [Br J Clin Pharmacol] 2024 Oct; Vol. 90 (10), pp. 2517-2528. Date of Electronic Publication: 2024 Jun 16.
Autor:
Falace, Antonio1 (AUTHOR) antoniofalace@gaslini.org, Volpedo, Greta2 (AUTHOR) greta.volpedo@edu.unige.it, Scala, Marcello2,3 (AUTHOR), Zara, Federico2,3 (AUTHOR), Striano, Pasquale1,2 (AUTHOR), Fassio, Anna4,5 (AUTHOR)
Publikováno v:
Cells (2073-4409). Sep2024, Vol. 13 Issue 17, p1441. 21p.
Autor:
Phomvisith, Ouanh1 (AUTHOR) ouanh80@gmail.com, Muroya, Susumu2 (AUTHOR) muros@vet.kagoshima-u.ac.jp, Otomaru, Konosuke3 (AUTHOR) otomaru@vet.kagoshima-u.ac.jp, Oshima, Kazunaga4 (AUTHOR) tenpoint@affrc.go.jp, Oshima, Ichiro2 (AUTHOR) oshima@agri.kagoshima-u.ac.jp, Nishino, Daichi5 (AUTHOR) 0214daichi@gmail.com, Haginouchi, Taketo1 (AUTHOR) haginouchi.taketo.b5@elms.hokudai.ac.jp, Gotoh, Takafumi1 (AUTHOR) gotoh@fsc.hokudai.ac.jp
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9242. 27p.
Autor:
Mohamed M; Department of Paediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Gardeitchik T; Department of Paediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Balasubramaniam S; Clinical Genetic Department, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur, Malaysia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Guerrero-Castillo S; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Dalloyaux D; Department of Paediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., van Kraaij S; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Venselaar H; Center of Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Urban Z; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA., Brandt U; Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Al-Shawi R; Wolfson Drug Discovery Unit, Division of Medicine, Royal Free Campus, University College London, London, UK., Simons JP; Wolfson Drug Discovery Unit, Division of Medicine, Royal Free Campus, University College London, London, UK., Frison M; Wolfson Drug Discovery Unit, Division of Medicine, Royal Free Campus, University College London, London, UK., Ngu LH; Clinical Genetic Department, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur, Malaysia., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Spelbrink H; Department of Paediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., Kallemeijn WW; Department of Medical Biochemistry, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands.; Department of Chemistry, Imperial College London, London, UK., Aerts JMFG; Department of Medical Biochemistry, Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands., Waugh MG; Lipid and Membrane Biology Group, Institute for Liver & Digestive Health, University College London, London, UK., Morava E; Haywards Genetics Center, Tulane University, New Orleans, Louisiana, USA.; Department of Pediatrics, University Medical Centre, Leuven, Belgium., Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2020 Nov; Vol. 43 (6), pp. 1382-1391. Date of Electronic Publication: 2020 Jun 26.
Autor:
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 374.
Autor:
van den Heuvel LP; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., van de Kar NCAJ; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Duineveld C; Department of Nephrology, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Sarlea A; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van der Velden TJAM; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Liebrand WTB; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van Kraaij S; Department of Laboratory Medicine, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Schjalm C; Department of Immunology, Oslo University Hospital and University of Oslo, Oslo, Norway., Bouwmeester R; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Wetzels JFM; Department of Nephrology, Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Mollnes TE; Department of Immunology, Oslo University Hospital and University of Oslo, Oslo, Norway.; Research Laboratory, Nordland Hospital, Bodø, and K. G. Jebsen TREC, University of Tromsø, Tromsø, Norway.; Center of Molecular Inflammation Research, Norwegian University of Science and Technology, Trondheim, Norway., Volokhina EB; Department of Pediatric Nephrology Amalia Children's Hospital, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. Elena.Volokhina@radboudumc.nl.; Department of Laboratory Medicine, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. Elena.Volokhina@radboudumc.nl.
Publikováno v:
Cellular & molecular immunology [Cell Mol Immunol] 2020 Jun; Vol. 17 (6), pp. 653-655. Date of Electronic Publication: 2020 Mar 24.
Autor:
Oshagbemi OA; a Department of Clinical Pharmacy and Toxicology, Maastricht University Medical Centre , Maastricht , the Netherlands.; b Department of Epidemiology, Care and Public Health Research Institute (CAPHRI), Maastricht University , Maastricht , the Netherlands.; c Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences , Utrecht , the Netherlands.; d CIRO , Horn , the Netherlands., Franssen FME; d CIRO , Horn , the Netherlands.; e Department of Respiratory Medicine, Maastricht University Medical Centre (MUMC+) , Maastricht , the Netherlands., van Kraaij S; a Department of Clinical Pharmacy and Toxicology, Maastricht University Medical Centre , Maastricht , the Netherlands., Braeken DCW; c Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences , Utrecht , the Netherlands.; d CIRO , Horn , the Netherlands.; e Department of Respiratory Medicine, Maastricht University Medical Centre (MUMC+) , Maastricht , the Netherlands., Wouters EFM; d CIRO , Horn , the Netherlands.; f Department of Respiratory Medicine, Academic Medical Centre (AMC), University of Amsterdam (UvA) Amsterdam , the Netherlands., Maitland-van der Zee AH; c Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences , Utrecht , the Netherlands.; f Department of Respiratory Medicine, Academic Medical Centre (AMC), University of Amsterdam (UvA) Amsterdam , the Netherlands., Driessen JHM; a Department of Clinical Pharmacy and Toxicology, Maastricht University Medical Centre , Maastricht , the Netherlands.; c Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences , Utrecht , the Netherlands.; g NUTRIM School for Nutrition and Translational Research in Metabolism, Maastricht University , Maastricht , the Netherlands., de Vries F; a Department of Clinical Pharmacy and Toxicology, Maastricht University Medical Centre , Maastricht , the Netherlands.; b Department of Epidemiology, Care and Public Health Research Institute (CAPHRI), Maastricht University , Maastricht , the Netherlands.; c Division of Pharmacoepidemiology and Clinical Pharmacology, Utrecht Institute of Pharmaceutical Sciences , Utrecht , the Netherlands.
Publikováno v:
COPD [COPD] 2019 Apr; Vol. 16 (2), pp. 152-159. Date of Electronic Publication: 2019 May 23.
Autor:
Schieveld JNM; Department of Psychiatry and Psychology, Division of Child and Adolescent Psychiatry and Psychology, Maastricht University Medical Center, Maastricht, The Netherlands. Electronic address: jan.schieveld@mumc.nl., Strik JJMH; Department of Psychiatry and Psychology, Division of Child and Adolescent Psychiatry and Psychology, Maastricht University Medical Center, Maastricht, The Netherlands., van Kraaij S; Department of Clinical Pharmacy and Toxicology, Maastricht University Medical Center, Maastricht, The Netherlands., Nicolai J; Maastricht University Medical Center, Department of Neurology, Maastricht, The Netherlands.
Publikováno v:
Handbook of clinical neurology [Handb Clin Neurol] 2019; Vol. 165, pp. 285-307.
Autor:
Gardeitchik T; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Mohamed M; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Ruzzenente B; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Karall D; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Guerrero-Castillo S; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Dalloyaux D; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., van den Brand M; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands., van Kraaij S; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., van Asbeck E; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Assouline Z; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France., Rio M; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France., de Lonlay P; Reference Center for Inherited Metabolic Diseases, Hôpital Necker-Enfants-Malades, Assistance Publique - Hôpitaux de Paris, Université Paris Descartes, Institut Imagine, 75015 Paris, France., Scholl-Buergi S; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Wolthuis DFGJ; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Sperl W; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Urban Z; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA 15261, USA., Brandt U; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Mayr JA; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria., Wong S; Hayward Genetics Center, Tulane University, LA 70112, USA., de Brouwer APM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Medical Center, 6500 HB Nijmegen, the Netherlands., Nijtmans L; Department of Pediatrics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Medical Center, 6500 HB Nijmegen, the Netherlands., Munnich A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France; Departments of Pediatrics, Neurology, and Genetics, Hôpital Necker-Enfants-Malades, 75015 Paris, France., Rötig A; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Metodiev MD; INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address: metodi.metodiev@inserm.fr., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA. Electronic address: emoravakozicz@tulane.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2018 Apr 05; Vol. 102 (4), pp. 685-695. Date of Electronic Publication: 2018 Mar 22.
Autor:
Van Damme T; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Gardeitchik T; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Mohamed M; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Guerrero-Castillo S; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Freisinger P; Childrens' Hospital, Klinikum am Steinenberg, Reutlingen 72764, Germany., Guillemyn B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran., Dalloyaux D; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., van Kraaij S; Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Lefeber DJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Syx D; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Steyaert W; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., De Rycke R; Department of Biomedical Molecular Biology, Ghent University, Ghent 9000, Belgium; Inflammation Research Center, VIB, Ghent 9000, Belgium., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Wong SY; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA., van Scherpenzeel M; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Jamali P; Shahrood Genetic Counseling Center, Semnan 36156, Iran., Brandt U; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Nijtmans L; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands., Korenke GC; Department of Neuropediatrics, Children's Hospital Klinikum Oldenburg, Oldenburg 26133, Germany., Chung BHY; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Hausser I; Institute of Pathology, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany., Kornak U; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Fischer-Zirnsak B; Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin 13353, Germany; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany., Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany., Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Acibadem University School of Medicine, Istanbul 34752, Turkey., Utine GE; Pediatric Genetics Unit, Department of Pediatrics, Ihsan Doğramacı Children's Hospital, Hacettepe School of Medicine, Ankara 06100, Turkey., Leung PKC; Department of Paediatrics & Adolescent Medicine, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Ghaderi-Sohi S; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran 14656, Iran., Coucke P; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Symoens S; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., De Paepe A; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Thiel C; Center for Child and Adolescent Medicine, Klinik Kinderheilkunde I, Universitätsklinikum Heidelberg, Heidelberg 69120, Germany., Haack TB; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg 85764, Germany; Institute of Human Genetics, Technische Universität München, Munich 81675, Germany; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72076, Germany., Malfait F; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium., Morava E; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA 70112, USA; Department of Pediatrics, University Hospital Leuven, Leuven 3000, Belgium., Callewaert B; Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent 9000, Belgium. Electronic address: bert.callewaert@ugent.be., Wevers RA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen 6500 HB, the Netherlands. Electronic address: ron.wevers@radboudumc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Feb 02; Vol. 100 (2), pp. 216-227. Date of Electronic Publication: 2017 Jan 05.