부산대학교 도서관

Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Brylka L; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Meinecke P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Oheim R; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Publisher: American Society for Bone and Mineral Research Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE

Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed AM; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin

American Journal of Human Genetics. 100(1)

Gripp KW; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; Smithson SF; Department of Clinical Genetics, University Hospitals Bristol and Weston, Bristol, UK.; Scurr IJ; Department of Clinical Genetics, University Hospitals Bristol and Weston, Bristol, UK.; Baptista J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; College of Medicine and Health, University of Exeter, Exeter, UK.; Majumdar A; Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK.; Pierre G; Department of Paediatric Metabolic Medicine, Bristol Royal Hospital for Children, Bristol, UK.; Williams M; Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.; Henderson LB; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; McLaughlin H; Invitae, San Francisco, CA, USA.; Leeuwen L; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Simon MEH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Dinulos MBP; Section of Genetics and Child Development, Children's Hospital at Dartmouth, Lebanon, NH, USA.; Kaplan JD; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE, USA.; McRae A; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Good JM; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, Switzerland.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

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

Aagaard Nolting L; Department of Pediatrics, Center for Rare Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.; Ek J; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Bak M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Ljungberg M; Department of Pediatrics, Center for Rare Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hove H; Department of Pediatrics, Center for Rare Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Hecher L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Gorski-Alberts E; Klinik für Kinder- und Jugendmedizin, Neonatologie und Pädiatrische Intensivmedizin, Klinikum Itzehoe, Itzehoe, Schleswig-Holstein, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Herwig J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Lausberg E; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Hillebrand G; Klinik für Kinder- und Jugendmedizin, Neonatologie und Pädiatrische Intensivmedizin, Klinikum Itzehoe, Itzehoe, Schleswig-Holstein, Germany.; Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany kkutsche@uke.de.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Elhady GM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Abd Elmaksoud M; Neurology Unit, Pediatric Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.; Ryu SW; 3billion Inc., Seoul, South Korea.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE

Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Rexach JE; Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Aynekin B; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Per H; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.; Güleç A; Division of Pediatric Neurology, Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala, India.; Sampaio H; Department of Women and Children's Health, University of New South Wales, Randwick Campus, Randwick, NSW, Australia.; Sydney Children's Hospital, Randwick, NSW, Australia.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.; Stoeva R; Department of Medical Genetics, Le Mans Hospital, Le Mans, France.; Myers K; Division of Bone Marrow Transplant, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Pena LDM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Kalfa TA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Chard M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.; Department of Pediatrics, Memorial University Faculty of Medicine, St. John's, NL, Canada.; Klassen M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.; Pries M; Provincial Medical Genetics Program, Newfoundland and Labrador Health Services, St. John's, NL, Canada.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. kkutsche@uke.de.

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

Abo‐Dalo, Benjamin; Kim, Hyung‐Goo; Roes, Melanie; Stefanova, Margarita; Higgins, Anne; Shen, Yiping; Mundlos, Stefan; Quade, Bradley J.; Gusella, James F.; Kutsche, Kerstin

American Journal of Medical Genetics. Part A; November 2007, Vol. 143 Issue: 22 p2668-2674, 7p

Kim, Hyung‐Goo; Higgins, Anne W.; Herrick, Steven R.; Kishikawa, Shotaro; Nicholson, Linda; Kutsche, Kerstin; Ligon, Azra H.; Harris, David J.; MacDonald, Marcy E.; Bruns, Gail A.P.; Morton, Cynthia C.; Quade, Bradley J.; Gusella, James F.

American Journal of Medical Genetics. Part A; January 2007, Vol. 143 Issue: 2 p107-111, 5p

Bauer CK; Department of Cellular and Integrative Physiology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: cbauer@uke.de.; Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Altmüller J; Cologne Center for Genomics University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.; Santos-Simarro F; Sección de Genética Clínica, Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28046 Madrid, Spain.; Baker L; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.; Keller-Ramey J; GeneDx, Gaithersburg, MD 20877, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3010, Australia.; Campeau PM; Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montréal, QC H3T 1C5, Canada.; Gripp KW; Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kkutsche@uke.de.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE