부산대학교 도서관

Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Daniel.calame@bcm.edu.; Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228.; Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA.; Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA; The University of Kansas Health System, Westwood, KS, USA.; Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.; Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom.; Firoozfar Z; Palindrome, Isfahan, Iran.; Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran.; Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA, USA.; Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran.; Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt.; Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Begtrup A; GeneDx, Gaithersburg MD 20877 USA.; Elloumi H; GeneDx, Gaithersburg MD 20877 USA.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA.; Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK.; Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Boostani R; Department of Neurology Mashhad University of Medical Sciences, Mashhad, Iran.; Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.; Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA.; Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA.; Maroofian R; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK.; Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu.; Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456. Electronic address: bchnnl@nus.edu.sg.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.; Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt.; Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt.; Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France.; Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan.; Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq.; Firoozfar Z; Palindrome, Isfahan, Iran.; Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey.; Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey.; Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France.; Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France.; Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA.; Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France.; Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France.; Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.; Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia.; Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.; Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States.; Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA.; Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA.; Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran.; Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France.; Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.; Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.; Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.; El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco.; Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine.; Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco.; Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152.; Levchenko O; Research Centre for Medical Genetics, Moscow, Russia.; Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan.; Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA.; Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil.; Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran.; Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India.; Tawde S; Department of Human Genetics, The University of Chicago, Illinois.; Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India.; Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil.; Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK.; Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt.; Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil.; Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan.; Idkaidak S; Al-Quds University, Jerusalem, Palestine.; Alqarajeh F; PRCS hospital, Hebron, Palestine.; Atawneh O; PRCS hospital, Hebron, Palestine.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany.; Kok F; Mendelics Genomic Analysis, São Paulo, Brazil.; Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil.; Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil.; Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.; Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan.; Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.; Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK.; Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea.; Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt.; Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.; Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil.; Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt.; Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA.; Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK.; Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Liu, Z. G.; Xin, B. Z.; Smith, I. N.; Sency, V.; Szekely, J.; Alkelai, A.; Shuldiner, A.; Efthymiou, S.; Rajabi, F.; Coury, S.; Brownstein, C. A.; Rudnik-Schoeneborn, S.; Bruel, A. L.; Thevenon, J.; Zeidler, S.; Jayakar, P.; Schmidt, A.; Cremer, K.; Engels, H.; Peters, S. O.; Zaki, M. S.; Duan, R. Z.; Zhu, Changlian, 1964; Xu, Y. R.; Gao, C.; Sepulveda-Morales, T.; Maroofian, R.; Alkhawaja, I. A.; Khawaja, M.; Alhalasah, H.; Houlden, H.; Madden, J. A.; Turchetti, V.; Marafi, D.; Agrawal, P. B.; Schatz, U.; Rotenberg, A.; Rotenberg, J.; Mancini, G. M. S.; Bakhtiari, S.; Kruer, M.; Thiffault, I.; Hirsch, S.; Hempel, M.; Stuehn, L. G.; Haack, T. B.; Posey, J. E.; Lupski, J. R.; Lee, H. Y. P.; Sarn, N. B.; Eng, C.; Gonzaga-Jauregui, C.; Zhang, B.; Wang, H.

Human Molecular Genetics. 32(20):2981-2995

Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA.; Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.

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

Erin A. Wirth; Alex Grant; Nasser A. Marafi; Arthur D. Frankel

Seismological Research Letters. 92(1):199-211

Cetica V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Pisano T; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Lesca G; Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Lyon, France.; Department of Genetics, University Hospitals of Lyon, Hospices Civils de Lyon, Lyon, France.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Licchetta L; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Riccardi F; Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Intercommunal Toulon - La Seyne sur Mer (CHITS), Hôpital Ste Musse, Service de Génétique Médicale, Toulon, France.; Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Chung HB; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing (LKS) Faculty of Medicine, University of Hong Kong, Hong Kong, China.; Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Balasubramanian M; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service (NHS) Foundation Trust, Sheffield, UK.; Lowenstein DH; Department of Neurology, University of California, San Francisco, California, USA.; Endzinienė M; Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.; Alotaibi M; King Saud Medical City, Riyadh, Saudi Arabia.; Villeneuve N; Depatment of Pediatric Neurology, Assistance Publique-Hopitaux de Marseille (AP-HM), Hôpital de la Timone Enfants, Marseille, France.; Jacobs J; Alberta Children's Research Institute, Hodgekiss Brain Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada.; Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Université de Nantes, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Solazzi R; Department of Pediatric Neuroscience, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Marjanovic D; Holbæk Hospital Medical Department, Holbæk, Denmark.; Rougeot-Jung C; Department of Pediatric Neurology, University Hospital of Lyon, Lyon, France.; Jung J; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, University Paris Cité, Paris, France.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK.; Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq.; Panagiotakaki E; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Foiadelli T; Clinica Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.; Redon S; Service de Génétique Médicale, Centre Hospitalier et Universitaire de Brest, Brest, France.; Université de Brest, Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang, UMR 1078, Brest, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Brest, France.; Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; School of Medicine, Chang Gung University, Kaohsiung, Taiwan.; Bisulli F; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Parrini E; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.

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

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