학술논문
'학술논문'
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Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Academic Journal
Lonneke Haer-Wigman; Amber den Ouden; Maria M. van Genderen; Hester Y. Kroes; Joke Verheij; Dzenita Smailhodzic; Attje S. Hoekstra; Raymon Vijzelaar; Jan Blom; Ronny Derks; Menno Tjon-Pon-Fong; Helger G. Yntema; Marcel R. Nelen; Lisenka E.L.M. Vissers; Dorien Lugtenberg; Kornelia Neveling
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Academic Journal
van Kuilenburg, ABP; Meijer, J; Mul, ANPM; Meinsma, R; Schmid, V; Dobritzsch, D; Hennekam, RCM; Mannens, MMAM; Kiechle, M; Etienne-Grimaldi, MC; Klumpen, HJ; Maring, JG; Derleyn, VA; Maartense, E; Milano, G; Vijzelaar, R; Gross, E
Human genetics. 128(5):529-538
Editorial & Opinion
Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist, the Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Verheij J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Vijzelaar R; MRC Holland b v, Amsterdam, the Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Academic Journal
van Kuilenburg ABP; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; Pleunis-van Empel MCH; Medisch Spectrum Twente, Department of Oncology, Enschede, the Netherlands.; Brouwer RB; Department of Clinical Chemistry and Laboratory Medicine, Medisch Spectrum Twente, Medlon BV, Enschede, the Netherlands.; Sijben AEJ; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands.; Knapen DG; Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Oude Munnink TH; Department of Clinical Pharmacy and Pharmacology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands.; van Zanden JJ; Martini Hospital Groningen, Certe Department of Clinical Chemistry, the Netherlands.; Janssens-Puister J; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Dobritzsch D; Department of Chemistry, Uppsala University, Biomedical Center, Uppsala, Sweden.; Meinsma R; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; Meijer-Jansen J; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; van Dooren SJM; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; Vijzelaar R; MRC-Holland bv, Amsterdam, the Netherlands.; Pop A; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; Salomons GS; Amsterdam University Medical Center, University of Amsterdam, Cancer Center Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands.; Maring JG; Departments of Clinical Pharmacy and Medical Oncology, Isala, Zwolle, the Netherlands.; Niezen-Koning KE; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet ISSN: 2473-4284 (Electronic) Linking ISSN: 24734284 NLM ISO Abbreviation: JCO Precis Oncol Subsets: MEDLINE
Academic Journal
van Kuilenburg, A B P; Etienne-Grimaldi, M-C; Mahamat, A; Meijer, J; Laurent-Puig, P; Olschwang, S; Gaub, M-P; Hennekam, R C M; Benchimol, D; Houry, S; Letoublon, C; Gilly, F-N; Pezet, D; Andre, T; Faucheron, J-L; Abderrahim-Ferkoune, A; Vijzelaar, R; Pradere, B; Milano, G
The Pharmacogenomics Journal. 15(3):211-218
Academic Journal
The Pharmacogenomics Journal. 13(6):558-566
Academic Journal
Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lonneke.haer-wigman@radboudumc.nl.; den Ouden A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; van Genderen MM; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands.; Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Verheij J; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Smailhodzic D; Bartiméus Diagnostic Center for complex visual disorders, Zeist, The Netherlands.; The Rotterdam Eye Hospital, Rotterdam, 3011 BH, The Netherlands.; Hoekstra AS; MRC Holland b v, Amsterdam, The Netherlands.; Vijzelaar R; MRC Holland b v, Amsterdam, The Netherlands.; Blom J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Derks R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Tjon-Pon-Fong M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Nelen MR; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Neveling K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Academic Journal
Neurogenetics. April 2007 8(2):149-153
Academic Journal
Human Mutation. Mar 01, 2008 29(3):433-440
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