부산대학교 도서관

Master Drawings, 1999 Oct 01. 37(3), 301-303.

Stickel, F; Buch, S; Zoller, H; Hultcrantz, R; Gallati, S; Osterreicher, C; Finkenstedt, A; Stadlmayr, A; Aigner, E; Sahinbegovic, E; Sarrazin, C; Schafmayer, C; Braun, F; Erhart, W; Nothnagel, M; Lerch, MM; Mayerle, J; Volzke, H; Schaller, A; Kratzer, W; Boehm, BO; Sipos, B; D'Amato, M; Torkvist, L; Stal, P; Arlt, A; Franke, A; Becker, T; Krawczak, M; Zwerina, J; Berg, T; Hinrichsen, H; Krones, E; Dejaco, C; Strasser, M; Datz, C; Hampe, J

Human molecular genetics. 23(14):3883-3890

Collaborative, Epi25; Feng, Yen-Chen Anne; Howrigan, Daniel P; Abbott, Liam E; Tashman, Katherine; Cerrato, Felecia; Singh, Tarjinder; Heyne, Henrike; Byrnes, Andrea; Churchhouse, Claire; Watts, Nick; Solomonson, Matthew; Lal, Dennis; Heinzen, Erin L; Dhindsa, Ryan S; Stanley, Kate E; Cavalleri, Gianpiero L; Hakonarson, Hakon; Helbig, Ingo; Krause, Roland; May, Patrick; Weckhuysen, Sarah; Petrovski, Slavé; Kamalakaran, Sitharthan; Sisodiya, Sanjay M; Cossette, Patrick; Cotsapas, Chris; De Jonghe, Peter; Dixon-Salazar, Tracy; Guerrini, Renzo; Kwan, Patrick; Marson, Anthony G; Stewart, Randy; Depondt, Chantal; Dlugos, Dennis J; Scheffer, Ingrid E; Striano, Pasquale; Freyer, Catharine; McKenna, Kevin; Regan, Brigid M; Bellows, Susannah T; Leu, Costin; Bennett, Caitlin A; Johns, Esther MC; Macdonald, Alexandra; Shilling, Hannah; Burgess, Rosemary; Weckhuysen, Dorien; Bahlo, Melanie; O’Brien, Terence J; Todaro, Marian; Stamberger, Hannah; Andrade, Danielle M; Sadoway, Tara R; Mo, Kelly; Krestel, Heinz; Gallati, Sabina; Papacostas, Savvas S; Kousiappa, Ioanna; Tanteles, George A; Štěrbová, Katalin; Vlčková, Markéta; Sedláčková, Lucie; Laššuthová, Petra; Klein, Karl Martin; Rosenow, Felix; Reif, Philipp S; Knake, Susanne; Kunz, Wolfram S; Zsurka, Gábor; Elger, Christian E; Bauer, Jürgen; Rademacher, Michael; Pendziwiat, Manuela; Muhle, Hiltrud; Rademacher, Annika; van Baalen, Andreas; von Spiczak, Sarah; Stephani, Ulrich; Afawi, Zaid; Korczyn, Amos D; Kanaan, Moien; Canavati, Christina; Kurlemann, Gerhard; Müller-Schlüter, Karen; Kluger, Gerhard; Häusler, Martin; Blatt, Ilan; Lemke, Johannes R; Krey, Ilona; Weber, Yvonne G; Wolking, Stefan; Becker, Felicitas; Hengsbach, Christian; Rau, Sarah; Maisch, Ana F; Steinhoff, Bernhard J; Schulze-Bonhage, Andreas; Schubert-Bast, Susanne; Schreiber, Herbert

American Journal of Human Genetics. 105(2)

Steiner, B; Rosendahl, J; Witt, H; Teich, N; Keim, V; Schulz, HU; Pfutzer, R; Luhr, M; Gress, TM; Nickel, R; Landt, O; Koudova, M; Macek, M; Farre, A; Casals, T; Desax, MC; Gallati, S; Gomez-Lira, M; Audrezet, MP; Ferec, C; des Georges, M; Claustres, M; Truninger, K

Human mutation. 32(8):912-920

Tosi, D.; Macchi, E. G.; Gallati, M.; Braschi, G.; Cigada, A.; Rossi, S.; Poeggel, S.; Leen, G.; Lewis, E.

2014 Conference on Lasers and Electro-Optics (CLEO) - Laser Science to Photonic Applications Lasers and Electro-Optics (CLEO), 2014 Conference on. :1-2 Jun, 2014

Imahorn, O.; Frauchiger, B.; Pedersen, E.; Kuehni, C.E.; Gallati, S.; Fingerhut, R.; Blanchon, S.; Jung, A.; Mornand, A.; Müller, D.; Regamey, N.; Trachsel, D.; Latzin, P.; Barben, J.

Journal of Cystic Fibrosis. 20:S44-S44

Giavina-Bianchi P; Oliveira E; Kalil J; Crameri R; Kraemer R

American Journal of Respiratory & Critical Care Medicine (AM J RESPIR CRIT CARE MED), May2007; 175(9): 967-968. (2p)

Jackson, C. B.; Bauer, M. F.; Schaller, A.; Kotzaeridou, U.; Ferrarini, A.; Hahn, D.; Chehade, H.; Barbey, F.; Tran, C.; Gallati, S.; Haeberli, A.; Eggimann, S.; Bonafé, L.; Nuoffer, J-M.

European Journal of Pediatrics. April 2016 175(4):517-525

Jackson, C.B.; Zbinden, C.; Gallati, S.; Schaller, A.

In Mitochondrion July 2014 17:67-75

Kraemer R; Centre of Pulmonary Medicine, Hirslanden Hospital Group, Salem-Hospital, Bern, Switzerland.; Department of Paediatrics, University of Bern, Bern, Switzerland.; School of Biomedical and Precision Engineering (SBPE), University of Bern, Bern, Switzerland.; Baty F; Department of Pneumology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.; Smith HJ; Medical Development, Research in Respiratory Diagnostics, Berlin, Germany.; Minder S; Centre of Pulmonary Medicine, Hirslanden Hospital Group, Salem-Hospital, Bern, Switzerland.; Gallati S; Department of Paediatrics, University of Bern, Bern, Switzerland.; Hirslanden Precise, Genomic Medicine, Hirslanden Hospital Group, Zollikon/Zürich, Switzerland.; Brutsche MH; Department of Pneumology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.; Matthys H; Department of Pneumology, University Hospital of Freiburg, Freiburg, Germany.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

The Application of Clinical Genetics, Vol 2014, Iss default, Pp 133-146 (2014)

Schneider, M.; Hirt, C.; Casaulta, C.; Barben, J.; Spinas, R.; Buhlmann, U.; Spalinger, J.; Schwizer, B.; Chevalier-Porst, F.; Gallati, S.

Clinical Genetics. July, 2007, Vol. 72 Issue 1, p30, 9 p.

Buch, S.; Way, M.J.; Stickel, F.; Ryan, E.; Zoller, H.; Griffiths, W.J.H.; McQuillin, A.; Zwerina, J.; Ryan, J.D.; Gallati, S.; Berg, T.; Datz, C.; Gotthardt, D.; Stewart, S.; Hampe, J.; Morgan, M.Y.

Journal of Hepatology. 66(1):S179-S180

Lin, S.; Ramelli, G. P.; Moser, H.; Gallati, S.; Burgunder, J.-M.

Journal of Neurology. Nov, 2002, Vol. 249 Issue 11, p1608, 4 p.

Schaller, A.; Desetty, R.; Hahn, D.; Jackson, C.B.; Nuoffer, J.-M.; Gallati, S.; Levinger, L.

In Mitochondrion May 2011 11(3):488-496

Kraemer R; Center of Pneumology, Hirslanden Salem-Spital, Bern, Switzerland richard.kraemer@hirslanden.ch.; School of Biomedical and Precision Engineering, University of Bern, Bern, Switzerland.; Smith HJ; Research in Respiratory Diagnostics, Medical Development, Berlin, Germany.; Reinstaedtler J; Vyaire Medical GmbH, Höchberg/Würzburg, Germany.; Gallati S; Hirslanden Precise, Genetic Medicine, Zollikon/Zürich, Switzerland.; Matthys H; Department of Pneumology, University of Freiburg, Freiburg im Breisgau, Germany.

Publisher: BMJ Publishing Group Ltd & British Thoracic Society Country of Publication: England NLM ID: 101638061 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4439 (Electronic) Linking ISSN: 20524439 NLM ISO Abbreviation: BMJ Open Respir Res Subsets: MEDLINE

Kristiansen, M; Knudsen, G.P; Tanner, S.M; McEntagart, M; Jungbluth, H; Muntoni, F; Sewry, C; Gallati, S; Ørstavik, K.H; Wallgren-Pettersson, C

Neuromuscular Disorders. 13(6):468-471

Schwab, Lorenz; Gallati, Niklas; Reiter, Sofie M.; Kimber, Richard L.; Kumar, Naresh; McLagan, David S.; Biester, Harald; Kraemer, Stephan M.; Wiederhold, Jan G.

Environmental Science & Technology. 10/10/2023, Vol. 57 Issue 40, p15243-15254. 12p.

Koko, M; Krause, R; Sander, T; Bobbili, DR; Nothnagel, M; May, P; Lerche, H; Feng, YCA; Howrigan, DP; Abbott, LE; Tashman, K; Cerrato, F; Singh, T; Heyne, H; Byrnes, AE; Churchhouse, C; Watts, N; Solomonson, M; Lal, D; Gupta, N; Gabriel, SB; Daly, MJ; Lander, ES; Neale, BM; Berkovic, SF; Goldstein, DB; Lowenstein, DH; Cavalleri, GL; Cossette, P; Cotsapas, C; De Jonghe, P; Dixon-Salazar, T; Guerrini, R; Hakonarson, H; Heinzen, EL; Dhindsa, RS; Stanley, KE; Helbig, I; Kwan, P; Marson, AG; Petrovski, S; Kamalakaran, S; Sisodiya, SM; Stewart, R; Weckhuysen, S; Depondt, C; Dlugos, DJ; Scheffer, IE; Striano, P; Freyer, C; McKenna, K; Regan, BM; Bellows, ST; Leu, C; Bennett, CA; Johns, EMC; MacDonald, A; Shilling, H; Burgess, R; Weckhuysen, D; Bahlo, M; O'Brien, TJ; Todaro, M; Stamberger, H; Andrade, DM; Sadoway, TR; Mo, K; Krestel, H; Gallati, S; Papacostas, SS; Kousiappa, I; Tanteles, GA; Štěrbová, K; Vlčková, M; Sedláčková, L; Laššuthová, P; Klein, KM; Rosenow, F; Reif, PS; Knake, S; Kunz, WS; Zsurka, G; Elger, CE; Bauer, J; Rademacher, M; Pendziwiat, M; Muhle, H; Rademacher, A; Van Baalen, A; Von Spiczak, S; Stephani, U; Afawi, Z; Korczyn, AD; Kanaan, M; Canavati, C; Kurlemann, G; Müller-Schlüter, K; Kluger, G; Häusler, M; Blatt, I

Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany.; Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.; Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran.; Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan.; Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia.; Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France.; Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.; Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain.; Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA.; Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.; Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.; Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA.; Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France.; Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA.; Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran.; Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey.; Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran.; Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.; Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany.; Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German.; Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France.; Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France.; Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland.; Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.; Berger SI; Children's National Research Institute, Washington DC, USA.; Andrew EH; Children's National Research Institute, Washington DC, USA.; Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran.; Morrow MM; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Millan F; GeneDx, Gaithersburg, MD, USA.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.; Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA.; McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France.; Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia.; Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA.; Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium.; Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK.; Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA.; Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA.; Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.

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