부산대학교 도서관

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse

EUROPEAN JOURNAL OF HUMAN GENETICS; FEB 15 2024, 6p.

Marshall, G.F.; Davies, F.C.J.; Le Seelleur, M.; Fernandez Alvarez, A.; Bennett-Ness, C.; Abbott, C.M.; Fasol, M.; Gonzalez-Sulser, A.

In: Disease models & mechanisms. (Disease models & mechanisms, 1 June 2024, 17(6))

Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse

European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p

Paulet, A.; Ageorges, F.; Levy, J.; Verloes, A.; Ruaud, L.; Bennett-Ness, C.; Abbott, C.M.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; PIARD, J.; Coubes, C.; Lam, W.; Lynch, S.A.; Samuel, G.; Ramond, F.; Fluss, J.; Fagerberg, C.; Brasch Andersen, C.; Varvagiannis, K.; Kleefstra, T.; de Boer, E.; Gérard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denommé-Pichon, A.-S.; Vincent-Devulder, A.; Haack, T.; Grimmel, M.; Riess, A.; Marsh, J.A.; Laulund, L.W.; Padilla-Lopez, S.; Bakhtiari, S.; Kruer, M.C.

In: European Journal of Human Genetics. (European Journal of Human Genetics, 2024)

Herman, R.; Bennett-Ness, C.; Maqbool, A.; Afzal, A.; Leech, A.; Thomas, G.H.

In: Microbiology (United Kingdom). (Microbiology (United Kingdom), 2020, 166(10):981-987)

Paulet A; Département de Génétique, Hôpital Robert-Debré, Paris, France. alix.paulet@hotmail.fr.; Bennett-Ness C; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ageorges F; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Trost D; Laboratoire Cerba, Saint-Ouen l'Aumône, France.; Green A; UCD School of Medicine and Medical Science Consultant in Clinical Genetics, Dublin, Ireland.; Goudie D; Regional Genetics Service, NHS Tayside, Dundee, Scotland, UK.; Jewell R; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, England, UK.; Kraatari-Tiri M; Department of Clinical Genetics, Research unit of Clinical Medicine, Medical Research Center Oulu, Oulu, Finland.; Oulu University Hospital and University of Oulu, Oulu, Finland.; Piard J; Centre de Génétique Humaine, CHU Besançon, Besançon, France.; Coubes C; Service de Génétique Médicale, CHU de Montpellier, Montpellier, France.; Lam W; South-East of Scotland Clinical Genetics Service, General Hospital, Edinburgh, Scotland, UK.; Lynch SA; Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; Groeschel S; Department of Neuropediatrics, University Children's Hospital, Tuebingen, Germany.; Ramond F; Service de Génétique, CHU Saint-Etienne - Hôpital Nord, Saint-Etienne, France.; Fluss J; University Hospitals of Geneva, Geneva, Switzerland.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Brasch Andersen C; Human Genetik, Syddansk Universitet, Odense, Denmark.; Varvagiannis K; Service de Médecine Génétique, Hôpitaux universitaires de Genève, Geneva, Switzerland.; Kleefstra T; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.; Gérard B; Molecular Biology, Nouvel Hôpital Civil, Strasbourg, France.; Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes, France.; Vitobello A; UMR-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Tenconi R; Servizio di Genetica Medica, Dipartimento di Pediatra, Padova, Italia.; Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Vincent-Devulder A; Génétique Médicale, CHU de Caen, Caen, France.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Marsh JA; MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland, UK.; Laulund LW; H C Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; de Boer E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Ostendorf A; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Colombus, OH, USA.; Zweier C; Department of Human Genetics, Inselspital Bern, University of Bern, 3010, Bern, Switzerland.; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054, Erlangen, Germany.; Smol T; University of Lille, EA7364-RADEME, Medical Genetics Institute, Chu Lille, Lille, France.; Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, INM, Montpellier University, Montpellier, France.; Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Faivre L; UMR1231 GAD, Inserm, Université de Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Maladies Rares « Anomalies du développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU dijon, Bourgogne, Dijon, France.; Scala M; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Bagnasco I; Division of Child Neuropsychiatry, Martini Hospital, Torino, Italy.; Koboldt D; Steve and Cindy Rasmussen Institute for Genomic Medicine Nationwide Children's Hospital, Colombus, OH, USA.; Iascone M; Laboratorio Di Genetica Medica, Bergamo, Italy.; Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Levy J; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Verloes A; Département de Génétique, Hôpital Robert-Debré, Paris, France.; Abbott CM; Centre for Genomic and Experimental Medicine and Simons Initiative for the Developing Brain, Institute of Genetics and Cancer, Edinburgh, Scotland, UK.; Ruaud L; Département de Génétique, Hôpital Robert-Debré, Paris, France.

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