부산대학교 도서관

Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.; Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.; Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.; Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.; Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.; Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.; Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.; Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.; Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.; Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain.; Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.; Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.; Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.; Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.; Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.; Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.; Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.; Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.; Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.; Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.; Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.; Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.; Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.; Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.; Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.; Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.; Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.

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

Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; O'Donnell-Luria A; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Aleck KA; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA.; Antaki D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Al Sharhan H; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Au PB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.; Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA.; Brand H; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Buyske S; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA.; Chodirker B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Choi J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea.; Chudley AE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Clericuzio CL; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.; Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Curry C; University of California, San Francisco, California, USA.; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA.; de Boer E; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; de Vries BBA; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands.; Dunn K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Dutmer CM; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA.; England EM; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.; Gibson WT; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.; Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Greenberg CR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Hall A; Waisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA.; Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Lauzon JL; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Lewis MES; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.; Lowry RB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; López-Giráldez F; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.; Matise TC; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.; McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; McInnes B; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.; Mhanni A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Garcia Minaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain.; Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Nguyen A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Õunap K; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Penney LS; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.; Poterba T; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy.; Doriqui MJR; Complexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil.; Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey.; Wargowski D; Division of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Wong I; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Xing J; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zhang Y; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA.; Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Nickerson DA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ludwig NF; Center of Gene Therapy, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Velho RV; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Sperb-Ludwig F; Center of Gene Therapy, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Acosta AX; Universidade Federal da Bahia, Salvador, Brazil.; Ribeiro EM; Faculdade de Medicina do Centro Universitário Christus, Fortaleza, Brazil.; Kim CA; Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.; Gandelman Horovitz DD; National Institute for Women's, Children's and Adolescents' Health Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.; Boy R; Pediatrics Department, Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil.; Rodovalho-Doriqui MJ; Juvêncio Mattos Children's Hospital, São Luiz, Maranhão, Brazil.; Lourenço CM; Ribeirão Preto Clinics Hospital, Universidade de São Paulo, Ribeirão Preto, Brazil.; Santos ES; Universidade Federal de Sergipe, Lagarto, Brazil.; Braulke T; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pohl S; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: s.pohl@uke.de.; Schwartz IVD; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address: ischwartz@hcpa.edu.br.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9508482 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-5875 (Electronic) Linking ISSN: 13572725 NLM ISO Abbreviation: Int J Biochem Cell Biol Subsets: MEDLINE

Araujo TF; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.; Ribeiro EM; Children's Hospital Albert Sabin, Fortaleza, CE, Brazil.; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil.; Arruda AP; Medical Sciences Faculty of Juazeiro do Norte (FMJ), Juazeiro do Norte, CE, Brazil.; Moreno CA; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.; de Medeiros PF; Federal University of Campina Grande, Campina Grande, PB, Brazil.; Minillo RM; Children's Clinic, City Hall of Guarulhos, Guarulhos, SP, Brazil.; Melo DG; Medical Department, Federal University of de São Carlos (UFSCAR), São Carlos, SP, Brazil.; Kim CA; Medical Genetics Unit, Children's Institute, Medical Sciences Faculty, University of São Paulo (FCMUSP), São Paulo, SP, Brazil.; Doriqui MJ; Children's Hospital Juvêncio Mattos, São Luís, MA, Brazil.; Felix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre, Porto Alegre, RS, Brazil.; Fock RA; Centro de Genética Médica da Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Cavalcanti DP; Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.; Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil. denisepcavalcanti@gmail.com.

Publisher: BioMed Central Country of Publication: England NLM ID: 9517857 Publication Model: Electronic Cited Medium: Internet ISSN: 2047-783X (Electronic) Linking ISSN: 09492321 NLM ISO Abbreviation: Eur J Med Res Subsets: MEDLINE

Rodovalho-Doriqui MJ; Laboratório de Genética e Biologia Molecular, Departamento de Biologia, Universidade Federal do Maranhão, São Luís, MA, Brasil.; Freitas PL; Pinho JD; Cavalli LR; Pereira SR

Publisher: FUNPEC Country of Publication: Brazil NLM ID: 101169387 Publication Model: Electronic Cited Medium: Internet ISSN: 1676-5680 (Electronic) Linking ISSN: 16765680 NLM ISO Abbreviation: Genet Mol Res Subsets: MEDLINE