부산대학교 도서관

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

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

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

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

Fingerhut R; Swiss Newborn Screening Laboratory, University Children's Hospital Zürich, Zurich, Zürich, Switzerland ralph.fingerhut@synlab.com.; Rueegg CS; Oslo Centre for Biostatistics and Epidemiology, Oslo University Hospital, Oslo, Norway.; Imahorn O; Division of Pediatric Pulmonology, Ostschweizer Kinderspital, St Gallen, St Gallen, Switzerland.; Pedersen ESL; Institute of Social and Preventive Medicine, University of Bern, Bern, Bern, Switzerland.; Kuehni CE; Institute of Social and Preventive Medicine, University of Bern, Bern, Bern, Switzerland.; Children's Hospital, Division of Pediatric Pulmonology, University of Bern, Bern, Bern, Switzerland.; Gallati S; Children's Hospital, Division of Human Genetics, Inselspital University Hospital Bern, Bern, Bern, Switzerland.; Regamey N; Children's Hospital, Division of Paediatric Pulmonology, Luzerner Kantonsspital, Luzern, Luzern, Switzerland.; Barben J; Division of Pediatric Pulmonology, Ostschweizer Kinderspital, St Gallen, St Gallen, Switzerland.

Publisher: British Medical Association Country of Publication: England NLM ID: 9501297 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2052 (Electronic) Linking ISSN: 13592998 NLM ISO Abbreviation: Arch Dis Child Fetal Neonatal Ed Subsets: MEDLINE

Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Rieubland C; Division of Human Genetics, University Children's Hospital, Inselspital, Bern, Switzerland.; Gallati S; Division of Human Genetics, University Children's Hospital, Inselspital, Bern, Switzerland.; Kim S; Department of Pharmacology and Chemical Biology and Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Myers SJ; Department of Pharmacology and Chemical Biology and Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Peterson V; Department of Pharmacology and Chemical Biology and Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Ramsey AJ; Department of Pharmacology and Toxicology, University of Toronto, Toronto, Ontario, Canada.; Teuscher DD; Department of Pharmacology and Chemical Biology and Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Traynelis SF; Department of Pharmacology and Chemical Biology and Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, 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.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Kraemer R; Blum A; Schibler A; Ammann RA; Gallati S

American Journal of Respiratory & Critical Care Medicine; 11/1/2011, Vol. 184 Issue 9, p371-378, 8p

Kraemer R; Deloséa N; Ballinari P; Gallati S; Crameri R

American Journal of Respiratory & Critical Care Medicine; 2006, Vol. 174 Issue 11, p1211-1220, 10p

Maciel P; Cruz VT; Constante M; Iniesta I; Costa MC; Gallati S; Sousa N; Sequeiros J; Coutinho P; Santos MM; Maciel, P; Cruz, V T; Constante, M; Iniesta, I; Costa, M C; Gallati, S; Sousa, N; Sequeiros, J; Coutinho, P; Santos, M M

Neurology; 2005 Aug 23, Vol. 65 Issue 4, p603-605, 3p

Rueegg CS; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Oslo Centre for Biostatistics and Epidemiology, Oslo University Hospital and Department of Biostatistics, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.; Kuehni CE; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Department of Pediatrics, Respiratory Unit, University of Bern, Bern, Switzerland.; Gallati S; Division of Human Genetics, University Children's Hospital Bern, Bern, Switzerland.; Jurca M; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.; Jung A; Division of Respiratory Medicine, University Children's Hospital of Zurich, Zurich, Switzerland.; Casaulta C; Department of Pediatrics, Respiratory Unit, University of Bern, Bern, Switzerland.; Barben J; Division of Pediatric Pulmonology, Children's Hospital of Eastern Switzerland, St. Gallen, Switzerland.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE