부산대학교 도서관

Demidov G.; Laurie S.; Torella A.; Piluso G.; Scala M.; Morleo M.; Nigro V.; Graessner H.; Banka S.; Van de Vondel L.; Bonne G.; Rabah B. Y.; Marce-Grau A.; Munell F.; Trimouille A.; Nascimento A.; Natera-de Benito D.; Chinnery P. F.; Renieri A.; Fallerini C.; Didier L.; Topf A.; Haack T. B.; Sommer A. K.; Pauly M. G.; Tartaglia M.; Dallapiccola B.; Johari M.; Savarese M.; Denomme-Pichon A. -S.; van de Warrenburg B. P. C.; van Os N. J. H.; Pinelli M.; Horvath R.; Havlovicova M.; de Sainte Agathe J. -M.; Stevanin G.; Jackson A.; Perez-Duenas B.; Macaya A.; Lohmann K.; Ossowski S.

Dominik N; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Record CJ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Miao X; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Lin RQ; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Parmar JM; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Scardamaglia A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lowe SA; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Aughey GN; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Wilson AD; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Curro R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Schnekenberg RP; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alavi S; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Leclaire L; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; He Y; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Bellaïche Y; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Gaugué I; Institut Curie, Université PSL, Sorbonne Université, CNRS UMR3215, INSERM U934, Genetics and Developmental Biology, 75005 Paris, France.; Skorupinska M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Van de Vondel L; Translational Neurosciences, Faculty of Medicine and Health Sciences, and.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Turchetti V; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Güngör S; Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatric Neurology, Malatya, Turkey.; Monahan GV; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Ghayoor Karimiani E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Jamshidi Y; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Lamont PJ; Royal Perth Hospital, Perth, Western Australia, Australia.; Armirola-Ricaurte C; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Topaloglu H; Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey.; Jordanova A; Molecular Neurogenomics group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Molecular Neurogenomics group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.; Zaman M; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Banu SH; Department of Pediatric Neurology, Dr. M.R. Khan Shishu (Children) Hospital and ICH, Mirpur, Dhaka, Bangladesh.; Marques W; Department of Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.; Tomaselli PJ; Clinical Hospital of Ribeirão Preto, Department of Neurosciences and Behaviour Sciences, University of São Paulo, Ribeirão Preto, Brazil.; Aynekin B; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.; Cansu A; Department of Pediatric Neurology, Faculty of Medicine, Farabi Hospital, Karadeniz Technical University, Trabzon, Turkey.; Per H; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Güleç A; Department of Pediatric Neurology, Erciyes University, Kayseri, Turkey.; Alvi JR; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Sultan T; Children's Hospital & the Institute of Child Health, Lahore, Pakistan.; Khan A; Neuropedia Children's Neuroscience Center, Dubai, United Arab Emirates.; Fakeeh University Hospital, Dubai, United Arab Emirates.; Kids Neuro Clinic, Dubai, United Arab Emirates.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Ibrahim S; Department of Pediatrics and Child Health, Aga Khan University, Karachi, Pakistan.; Mancini GMS; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Brusse E; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Lupo V; Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.; Sevilla T; Hospital Universitari i Politècnic La Fe & IIS La Fe, Neuromuscular Diseases Unit, Department of Neurology, Valencia, Spain.; Universitat de València, Valencia, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Başak AN; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Tekgul S; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Palvadeau RJ; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Research Center for Translational Medicine (KUTTAM), Koç University School of Medicine, Istanbul, Turkey.; Baets J; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Center, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Parman Y; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Çakar A; Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.; Haack TB; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Stahl JH; Department of Epileptology, Center of Neurology, and.; Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; Grundmann-Hauser K; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Park J; Center for Rare Disease.; Institute of Medical Genetics and Applied Genomics.; Zuchner S; John P. Hussman Institute for Human Genomics and.; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, Florida, USA.; Laing NG; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Wilson LA; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Polke J; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery and the North Thames Genomics Laboratory Hub, London, United Kingdom.; Figueiredo FB; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Pessoa A; Universidade Federal Do Ceara - UFC and Hospital Infantil Albert Sabin, Fortaleza, Brazil.; Kok F; Mendelics Genomic Analysis, São Paulo, São Paulo, Brazil.; Coimbra-Neto AR; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Department of Neurology, School of Medicine, Centro Universitário Uninovafapi - UNINOVAFAPI, Teresina, Piauí, Brazil.; Franca MC Jr; Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Ravenscroft G; Harry Perkins Institute of Medical Research, Center for Medical Research, University of Western Australia, Perth, Western Australia, Australia.; Hamed SA; Department of Neurology and Psychiatry, Faculty of Medicine, Assiut University, Assiut, Egypt.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Pittman AM; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Osborn DP; Department of Molecular & Biomedical Sciences, City St George's University of London, United Kingdom.; Hanna M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Cortese A; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; Jepson JE; Department of Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lamarche-Vane N; Department of Anatomy and Cell Biology, McGill University, Montréal, Quebec, Canada.; Cancer Research Program, Research Institute of the McGill University Health Center, Montréal, Quebec, Canada.; Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

van Deinsen, L.; Van de Velde, F.; van den Abeele, A.; Abrugge, M.; van Akerlaacken, M.M.; Alewyn, A.; van Alphen, P.C.; van Alphen, H.; Ampt, A.; Ampzing, S.; Anslijn, N.; Anslo, R.; Antheunis, J.J.; van der Goes, A.; Asschenberg, H.; Asselijn, T.; Baardt, P.; Badon, J.; Bake, L.; Barbaz, A.L.; Bartentzonius, N.; Barlaeus, C.; Baseler, G.; van Beers, J.; Beets, D.P.; Beets, N.; Bellamy, J.; Bellemans, D.; Bellet, J.; Benoit, P.; Berchmans, A.; Berchmans, J.D.; Bergmann, A.; Bernagie, P.; van Beverwijck, J.; de Bie, C.; Biens, C.P.; Biestkens, N.; Bijns, A.; Bilderdijk, W.; Blommaert, P.; Benningh, J.B.; de Boer, F.; Bollaert, S.; Bolognino, W.; Bontekoe, W.I.; Bontius, R.; de Boodt, A.B.; Bor, P.; van der Borcht, W.; Bormeester, A.; van Borsselen, P.; Bosch, M.; Bottens, F.; Bottens, F.; Bouwdewijns, K.; van Bouricius, E.; Bouvaert, A.T.; van Bracht, T.; van den Brande, G.; Bredero, G.A.; Brender a Brandis, G.; Brinkman, A.C.; van Blokzijl, G.B.; Brongersma, T.; Bruno, A.; Buijts, H.; van Bulderen, H.; Burchoorn, I.; Huet, C.B.; Busschoff, B.; Buysero, D.; Baartmans, H.W.C.; van der Werken, M.G.; Cammaert, J.F.; Camphuysen, D.; Carboniers, E.; Carelius, M.L.; de Castelein, M.; Cats, J.; Cau-Tereels, P.J.; Celosse, J.; Cleve, J.C.; Cloeck, J.; Clyburg, J.; Codde, P.; Coleners, R.; Conscience, H.; Coomans, J.; Coornhert, D.V.; Cordeys, G.; Corver, M.; de la Court, P.; Cracco, D.; Cremer, J.J.; de la Croix, P.; Croon, P.; da Costa, I.; Daalberg, B.; van Daele, F.D.; Dannoot, D.; Daum, P.A.; Dautzenberg, J.M.; de Klugmann, J.N.; Deken, A.; Delcroix, J.; van der Deliën, M.; de Dene, E.; Détert, B.; D'Huygelaere, M.; Egges, C.M.D.; Doolaeghe, M.-F.; Doornaert, A.; Dop, M.; van Driessche, E.; Droste, C.; Dubuisson, P.U.; Duclos, A.; Duijkerius, J.; Duim, F.; Dullaert, J.; Duvillers, C.; Duym, J.; Ecrevisse, P.; van der Eembd, G.; Van Effen, J.; den Elger, W.; Elsens, F.P.; van den Elsken, J.J.; van Elstland, L.; Emants, M.; Emmerechts, J.J.; Naam; Fardon, A.B.; Feith, R.; Feylingius, J.; van Focquenbroch, W.G.; Simonsz, A.F.; Fournier, K.L.; van Berkhey, J.L.F.; Frédericq, S.; de Grave, J.; van Genabeth, P.; de Genestet, P.A.; Gerijts, S.; Gerrits, V.; Gerrits, L.; Geschier, P.; de Geyter, J.; Gezelle, G.; Ghyben, K.; van Godewyck, M.; Godin, F.; van Goethem, J.-C.; van der Gon, C.; Gordon, G.; Gramsbergen, M.; van Griethuysen, S.; van der Groe, E.; van Gyzen, J.; van Haeften, M.; van Haeften, B.; van Halmale, G.; van Harduwijn, J.; van Haren, O.Z.; van Harnixma, H.; Hartloop, E.; Hasebroek, E.J.; Haverkorn, W.; Haverschmidt, F.; Heems, F.; Heemssen, J.D.; van Heilbach, A.; Hellynckx, F.; Helmcke, J.E.; Helmers, J.F.; van Hengel, M.; Hennebo, R.; Herbig, F.; Heremans, J.F.J.; vander Heyden, A.; Heynck, D.P.; Heyns, M.; Hiel, E.; Hiers, C.; Hoefnagel, N.; van der Hoeven, W.; Hofman, C.A.; Hofman, J.B.J.; Hoobius, J.; Hoofman, E.; van Hoogenveen, C.; Hoogvliet, A.; van Hoolwerff, H.; van der Horst, A.; Hoste, J.; van Hout, J.; van den Houte, S.; Houwaert, J.B.; Hulshoff, M.A.; de Huybert, C.; Huydecoper, B.; Huygens, C.; Huys, V.; Ibsen, H.; Ilberi, A.; Imbert, M.C.; van der Jagt, W.; Oly, C.J.; Japix, G.; Jonctys, D.; van Jongstal, S.; Kehrer, J.W.A.; Keysers, P.; Kinker, J.; Kinker, J.; Klinkhamer, G.; Kneppelhout, J.; Kolm, J.S.; Krafft, J.L.; Krook, E.; Krul, J.H.; Labare, J.A.; de Lamartine, A.; Langelaan, H.M.; Langendijk, P.; De Lannoy, J.C.; Lawet, R.; Ledeganck, K.; van Leenhof, F.; Lenige, C.; Lescailje, K.; Liens, C.; Lingelbach, D.; Lochon, C.; van Lom, E.; van Lom, M.; Loveling, R.; Loveling, V.; Lubbers, J.; Luycken, J.; Luzac, E.; van der Maesen, M.J.; Makeblijde, L.; van Male, J.P.; van der Malen, J.R.; Mallants, P.; van Mander, K.; de Marre, J.; Mastenbroek, F.; Mather, E.; Mauricius, J.J.; van Maurik, J.; van Merken, L.W.; van der Merwede, M.; Metz, D.; vander Meulen, C.; Meulewels, P.; Meysters, E.; van Milst, N.; Moens, P.; Moens, A.M.; de Moerloose, I.; Moerman, J.; Mollerus, A.C.; Mommael, C.; Mommaert, J.; Moonen, A.; Morian, A.; Moyson, E.; Multatuli; de Neufville, C.L.; de Neufville, M.J.; Nevius, S.; van Nijenborch, J.; Nys, K.; Nomsz, J.; Numan, P.; Nuyts, P.; Ockerse, A.; Ockerse, W.A.; Ogier, B.; Oltmans, J.F.; Ondereet, K.; van Os, C.; van Osch, L.B.; Othonia, J.; Oudaen, J.; van Overbeke, A.; van Overstraten, A.; van Oye, E.; Paape, G.; Paauw, A.M.; Pamans, G.; Pars, A.; Pauwels, J.A.F.; Van Peene, M.; van Peene, H.; Pels, A.; Peremans, C.; de Perponcher, W.E.; Pers, D.P.; Petyt, M.; Peys, A.; Pierson, A.; Piré, J.C.; Pluimer, J.; Poirters, A.; Pollius, M.; Poot, H.K.; Post, E.M.; Potgieter, E.J.; de Put, B.; Puttemans, A.; Pypers, P.; Questiers, C.; Rabus, P.; van Randenraedt, J.B.; de Reeck, W.; Rethaan, A.; Revius, J.; Ridderus, F.; Riemsnijder, H.; van Rijndorp, A.; Rodenburgh, T.; Visscher, A.R.; Visscher, M.T.R.; Ronsse, J.; Rosseels, E.; Rotgans, L.; van Rusting, S.; Sanders, L.; van Schie, M.; Schilperoort, A.B.; Schimmel, H.J.; Schiotling, E.C.F.; Schonck, E.; van Schrieck, A.; van der Schueren, J.F.; van Schurman, A.M.; Schweickhardt, K.W.; Scriverius, P.; Sena, A.M.; Simillion, K.; Sleeckx, D.; Slicher, A.C.; Smeeks, H.; de Smet, M.; Smout, D.; Snellaert, F.A.; Soetendal, H.; van Someren, J.; van de Sompele, L.; van Sorgen, P.; van Spaan, G.; Spandaw, H.A.; Spanoghe, C.M.; Spinniker, A.; van Spoelbergh, W.; van der Wiele, J.S.; Staring, A.C.W.; Starter, J.J.; Steendam, J.; van Steenwyk, F.; Stichelbaut, A.; Strijpen, J.; van Swaanenburg, W.; de Swaen, M.; Swildens, J.H.; van Sytzama, C.F.; t Hoen, P.; Teellinck, C.; Ternest, E.; Tijssens, G.; de Timmerman, P.J.; Tollens, H.; Toussaint, A.L.G.; Uylenbroek, P.J.; van der Veer, C.; van der Veer, A.; Verboom, M.; Verhoek, P.; Verhoeven, W.F.G.; Verlooy, J.B.C.; Verlove, K.; Vermeulen, C.; Verstegen, R.; Vervoorn, E.; Verwers, K.; Vincentius, A.M.; Vollenhove, J.; van den Vondel, J.; Voordaagh, J.; Vosmaer, C.; Vreede, P.; Vuylsteke, J.; de Wael, F.; van Weert, G.; Wellekens, J.B.; van Wemmel, M.B.; van der Werve, J.; Westerbaen, J.; van Westrem, F.J.; van der Weyde, C.L.; Weyerman, J.C.; Wijten, G.; de Wilde, M.; de Wilde, C.P.; Willink, D.; van der Wilp, S.M.; Winckelman, J.P.; Wiselius, S.I.; de With, K.J.; Woesthoven, M.P.; Wolff, E.; van der Woude, E.; van Wouwe, E.; Ysermans, J.; Zeebots, W.; Zeeus, J.; Zetternam, E.; van Zon, S.M.; van Zuylekom, M.; van Zuylen, B.; Zwartte, A.

In: Nederlandse Letterkunde. (Nederlandse Letterkunde, 2022, 27(2):121-160)

Efthymiou, S.; Dominik, N.; Miao, X.; Record, C.; Maroofian, R.; Aughrey, G.; Motazacker, M.; Armirola-Ricaurte, C.; Lupo, V.; Sevilla, T.; Basak, N.; Gungor, S.; Aynekin, B.; Van de Vondel, H. Per L.; Karimiani, E.; Zuchner, S.; Topaloglu, H.; Jordanova, A.; Horvath, R.; Haack, T. B.; Reilly, M.; Jepson, J.; Lamarche-Vane, N.; Houlden, H.

EUROPEAN JOURNAL OF NEUROLOGY; JUN 2023, 30 p555-p555, 1p. Supplement: 1

Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Hernández-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Schüle R; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; 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.; de Voer R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Tonda R; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Fernandez-Callejo M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Picó D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Garcia-Linares C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Corvó A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Joshi R; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Diez H; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Gut I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; European Reference Network for Rare Neurological Diseases, Tübingen, Germany.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain. sergi.beltran@cnag.crg.eu.; Universitat Pompeu Fabra (UPF), Barcelona, Spain. sergi.beltran@cnag.crg.eu.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain. sergi.beltran@cnag.crg.eu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE