부산대학교 도서관

Vulto-van Silfhout, Anneke T. ; Jazet, Ingrid M. ; Yzer, Suzanne ; Pas, Jeroen ; Demirdas, Serwet ; van Rossum, Elisabeth F.C. ; Thiadens, Alberta A.H.J. ; van Beek, Ronald ; Haer-Wigman, Lonneke ; Barge-Schaapveld, Daniela Q.C.M. ; Brasch-Andersen, Charlotte ; Frost, Simon ; Bauwens, Miriam ; De Baere, Elfride ; Balikova, Irina ; Van den Broeck, Filip ; Weisz-Hubshman, Monika ; Joset, Pascal ; Miny, Peter ; Filges, Isabel ; Kohl, Susanne ; De Angeli, Pietro ; Kühlewein, Laura ; Bodenbender, Jan-Philipp ; Haack, Tobias ; Poths, Karin ; Fernandez-Caballero, Lidia ; Corton, Marta ; Blanco Kelly, Fiona ; Ayuso, Carmen ; Martínez-Esteban, Peggy ; Vissing, John ; Díaz-Manera, Jordi ; Straub, Volker ; Töpf, Ana ; Lin, Siying ; Arno, Gavin ; Macken, William L. ; Spillane, Jennifer ; Ramachandran, Radha ; de Vrieze, Erik ; van Ham, Tjakko ; Roosing, Susanne ; Oud, Machteld M.

In Genetics in Medicine June 2025

Jee, Youn Hee ; Lui, Julian C. ; Marafi, Dana ; Xia, Zhi-Jie ; Bhatia, Ruchika ; Zhou, Elaine ; Herman, Isabella ; Temnycky, Adrian ; Whalen, Philip ; Elliot, Gene ; Leschek, Ellen W. ; Wijngaard, Robin ; van Beek, Ronald ; de Vreugd, Annemarie ; de Vries, Maaike C. ; van Karnebeek, Clara D.M. ; Oud, Machteld M. ; Markello, Thomas C. ; Barnes, Kevin M. ; Alrohaif, Hadil ; Freeze, Hudson H. ; Gahl, William A. ; Malicdan, May Christine V. ; Posey, Jennifer E. ; Lupski, James R. ; Baron, Jeffrey

In Genetics in Medicine Open 2025 3

Mantere, Tuomo ; Neveling, Kornelia ; Pebrel-Richard, Céline ; Benoist, Marion ; van der Zande, Guillaume ; Kater-Baats, Ellen ; Baatout, Imane ; van Beek, Ronald ; Yammine, Tony ; Oorsprong, Michiel ; Hsoumi, Faten ; Olde-Weghuis, Daniel ; Majdali, Wed ; Vermeulen, Susan ; Pauper, Marc ; Lebbar, Aziza ; Stevens-Kroef, Marian ; Sanlaville, Damien ; Dupont, Jean Michel ; Smeets, Dominique ; Hoischen, Alexander ; Schluth-Bolard, Caroline ; El Khattabi, Laïla

In The American Journal of Human Genetics 5 August 2021 108(8):1409-1422

Neveling, Kornelia ; Mantere, Tuomo ; Vermeulen, Susan ; Oorsprong, Michiel ; van Beek, Ronald ; Kater-Baats, Ellen ; Pauper, Marc ; van der Zande, Guillaume ; Smeets, Dominique ; Weghuis, Daniel Olde ; Stevens-Kroef, Marian J.P.L. ; Hoischen, Alexander

In The American Journal of Human Genetics 5 August 2021 108(8):1423-1435

de Bruijn, Suzanne E.; Ingeborgh van den Born, L.; Derks, Ronny; Haer-Wigman, Lonneke; O’Gorman, Luke; Cremers, Frans P. M.; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

npj Genomic Medicine. 10(1)

van der Sanden, Bart; Neveling, Kornelia; Shukor, Syukri; Gallagher, Michael D.; Lee, Joyce; Burke, Stephanie L.; Pennings, Maartje; van Beek, Ronald; Oorsprong, Michiel; Kater-Baats, Ellen; Kamping, Eveline; Tieleman, Alide A.; Voermans, Nicol C.; Scheffer, Ingrid E.; Gecz, Jozef; Corbett, Mark A.; Vissers, Lisenka E. L. M.; Pang, Andy Wing Chun; Hastie, Alex; Kamsteeg, Erik-Jan; Hoischen, Alexander

GENOME RESEARCH; APR 2025, 35 4, p810-p823, 14p.

Schobers, Gaby; Pennings, Maartje; de Vries, Juliette; Kwint, Michael; van Reeuwijk, Jeroen; Corominas Galbany, Jordi; van Beek, Ronald; Kamping, Eveline; Timmermans, Raoul; Kamsteeg, Erik-Jan; Haer-Wigman, Lonneke; Cremers, Frans P. M.; Roosing, Susanne; Gilissen, Christian; Kremer, Hannie; Brunner, Han G.; Yntema, Helger G.; Vissers, Lisenka E. L. M.

European Journal of Human Genetics. 33(1):56-64

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, 115522, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, 117997, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, 394036, Russian Federation.; Atiakshin D; RUDN University, Moscow, 117198, Russian Federation.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, 6525, The Netherlands.; Medici E; Department of Neurology, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Nemoto J; Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, 755-8505, Japan.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Okabe T; Okabe Children's Clinic, Toyama, 939-8211, Japan.; Kimoto Y; Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, 889-1692, Japan.; Tokito T; Tokito Clinic Rheumatology and Orthopedic Surgery, Shimonoseki, Yamaguchi, 752-0976, Japan.; Nakanowatari M; Department of Neurology, Ushioda General Hospital, Yokohama, Kanagawa, 230-0001, Japan.; Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Estrella EA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Kunkel LM; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Osei-Owusu I; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mangilog B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Genetti CA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Valivullah ZM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, 33000, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, 33076, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Milic Rasic V; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kovacevic G; Mother and Child Health Care Institute, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Gontijo Camelo C; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Habib C; Clinical Genetics, Austin Health, Melbourne, VIC, 3084, Australia.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, 3168, Australia.; Beggs AH; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, 00290, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, 6525, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Udd B; Folkhälsan Research Center, Helsinki, 00290, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Whiting, Kae R.; Haer-Wigman, Lonneke; Florijn, Ralph J.; van Beek, Ronald; Oud, Machteld M.; Plomp, Astrid S.; Boon, Camiel J. F.; Kroes, Hester Y.; Roepman, Ronald

European Journal of Human Genetics. 32(11):1412-1418

Mantere, Tuomo; Neveling, Kornelia; Richard, Céline; Benoist, Marion; van der Zande, Guillaume; Kater-Baats, Ellen; Baatout, Imane; van Beek, Ronald; Yammine, Tony; Oorsprong, Michiel; Olde-Weghuis, Daniel; Majdali, Wed; Vermeulen, Susan; Pauper, Marc; Lebbar, Aziza; Stevens-Kroef, Marian; Sanlaville, Damien; Smeets, Dominique; Dupont, Jean-Michel; Hoischen, Alexander; Schluth-Bolard, Caroline; El Khattabi, Laïla

In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S263-S263

Walczak-Sztulpa, Joanna; Wawrocka, Anna; Doornbos, Cenna; van Beek, Ronald; Sowińska-Seidler, Anna; Jamsheer, Aleksander; Bukowska-Olech, Ewelina; Latos-Bieleńska, Anna; Grenda, Ryszard; Bongers, Ernie M. H. F.; Schmidts, Miriam; Obersztyn, Ewa; Krawczyński, Maciej R.; Oud, Machteld M.

Frontiers in Genetics; 7/7/2022, Vol. 13, p1-9, 9p

Wijngaard R; van der Made CI; Kalkan Uçar S; Ramakrishnan G; Rosenfeld JA; Vogel TP; Nicholas SK; Weisz-Hubshman M; Cabrera-Orefice A; Siebels B; Mair T; Schlüter H; Smeets RL; van Beek R; van Karnebeek CDM; Hoischen A; Vissers LELM; Wortmann SB; Wevers RA; Oud MM; Guerrero-Castillo S

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Ramos, Luiza Lorena Pires; Parmar, Jevin; Winjgaard, Robin; Grosz, Bianca; Lazar, Tamas; Mateiu, Ligia; Vucic, Steve; Kumar, Kishore; Yeow, Dennis; Rudaks, Laura; De Boer, Lonneke; De Vreugd, Annemarie; Koolen, David; Gardeitchik, Thatjana; Cairns, Anita; Iyengar, Krishnan; Kok, Fernando; Figueiredo, Fernanda Barbosa; Carvalho, Alzira de Siqueira; Barbosa, Luiz Mageste; Arantes, Rodrigo Rezende; Tournev, Ivailo; Rehbein, Tyler; Bontrager, Jordan; Wood, Elizabeth; Sowden, Janet; Cuijt, Ivy; Ellis, Melina; Siles, Gonzalo Perez; McNamara, Elyshia; van Beek, Ronald; Meijers, Celine; Zuchner, Stephan; Wodak, Shoshana; van Karnebeek, Clara; Laing, Nigel; Herrmann, David; Guergueltcheva, Velina; Semcesen, Liana; Stroud, David; Kennerson, Marina; Oud, Machteld; Ravenscroft, Gianina; Candayan, Ayse; Jordanova, Albena

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; AUG 2025, 30 3, p260-p261, 2p. Supplement: S

Doornbos, Cenna; van Beek, Ronald; Bongers, Ernie M. H. F.; Lugtenberg, Dorien; Klaren, Peter. H. M.; Vissers, Lisenka E. L. M.; Roepman, Ronald; Oud, Machteld M.

European Journal of Human Genetics. 29(11):1677-1689

Neveling, Kornelia; van Beek, Ronald; Kamping, Eveline; Steehouwer, Marloes; van der Sanden, Bart; Sagath, Lydia; Batlle-Maso, Laura; Colobran, Roger; Vissers, Lisenka; Hoischen, Alexander

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p808-p809, 2p. Supplement: 2

Vulto-van Silfhout, Anneke; Haer-Wigman, Lonneke; Yzer, Suzanne; van Beek, Ronald; Jazet, Ingrid; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Hubshman, Monika Weisz; Joset, Pascal; Miny, Peter; Filges, Isabel; Demirdas, S.; Van Ham, Tjakko; van Rossum, Elisabeth F. C.; Thiadens, A.; Kohl, Susanne; Kuehlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Schaeferhoff, Karin; Roosing, Susanne; Oud, Machteld

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1333-p1334, 2p. Supplement: 2

van der Sanden, Bart; Vorimo, Sandra; Brunet, Theresa; Boughalem, Aicha; Jacob, Maureen; van Beek, Ronald; Kamping, Eveline; Rahikkala, Elisa; Kuismin, Outi; Moilanen, Jukka; Pylkas, Katri; Graf, Elisabeth; Loesecke, Sandy; Vissers, Lisenka; Winkelmann, Juliane; Neveling, Kornelia; Meitinger, Thomas; Mantere, Tuomo; Trost, Detlef; Hoischen, Alexander

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1576-p1577, 2p. Supplement: 2

de Bruijn, Suzanne E.; van den Born, L. Ingeborgh; Derks, Ronny; O'Gorman, Luke; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1330-p1330, 1p. Supplement: 2

de Bruijn, Suzanne E.; van den Born, L. Ingeborgh; Derks, Ronny; O'Gorman, Luke; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1330-p1330, 1p. Supplement: 2

Verhoeven, Willem M.A.; Egger, Jos I.M.; van den Bergh, Joop P.W.; van Beek, Ronald; Kleefstra, Tjitske; de Leeuw, Nicole

American Journal Of Medical Genetics - A. Jan 01, 2015 167(1):169-173