부산대학교 도서관

Barish, Scott ; Lin, Sheng-Jia ; Maroofian, Reza ; Gezdirici, Alper ; Alhebby, Hamoud ; Trimouille, Aurélien ; Biderman Waberski, Marta ; Mitani, Tadahiro ; Huber, Ilka ; Tveten, Kristian ; Holla, Øystein L. ; Busk, Øyvind L. ; Houlden, Henry ; Ghayoor Karimiani, Ehsan ; Beiraghi Toosi, Mehran ; Shervin Badv, Reza ; Najarzadeh Torbati, Paria ; Eghbal, Fatemeh ; Akhondian, Javad ; Al Safar, Ayat ; Alswaid, Abdulrahman ; Zifarelli, Giovanni ; Bauer, Peter ; Marafi, Dana ; Fatih, Jawid M. ; Huang, Kevin ; Petree, Cassidy ; Calame, Daniel G. ; von der Lippe, Charlotte ; Alkuraya, Fowzan S. ; Wali, Sami ; Lupski, James R. ; Varshney, Gaurav K. ; Posey, Jennifer E. ; Pehlivan, Davut

In The American Journal of Human Genetics 7 November 2024 111(11):2566-2581

Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; Taherpour, Mehdi; Birjandi, Hassan; Alizadeh, Behzad; Salih, Aso Faeq; Bijari, Moniba; Houlden, Henry; Pittman, Alan Michael; Maroofian, Reza; Almashham, Yahya H.; Karimiani, Ehsan Ghayoor; Kaski, Juan Pablo; Faqeih, Eissa Ali; Vakilian, Farveh

Genes. Jan2023, Vol. 14 Issue 1, p182. 11p.

Barazandeh Shirvan, Bita; Akhondian, Javad; Layegh, Parvaneh; Hashemi, Narges; Ghayoor Karimiani, Ehsan; Rezaie, Razie; Najarzadeh Torbati, Paria; beiraghi toosi, mehran

Reviews in Clinical Medicine, Vol 11, Iss 3, Pp 29-32 (2024)

Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo

American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2652-2665, 14p

Arab F; Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.; Ahangari N; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, United Kingdom, Iran.

Publisher: Medknow Publications and Media Pvt. Ltd Country of Publication: India NLM ID: 101586897 Publication Model: eCollection Cited Medium: Print ISSN: 2277-9175 (Print) Linking ISSN: 22779175 NLM ISO Abbreviation: Adv Biomed Res Subsets: PubMed not MEDLINE

Nik, Amir; Ahangari, Najmeh; Najarzadeh Torbati, Paria; Boostani, Reza; Ghayoor Karimiani, Ehsan

Cureus

Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain.; Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain.; Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia.; Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt.; Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany.; Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.; Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK.; Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia.; Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia.; Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany.; Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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

Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Str. 62, 50937, Köln, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Pemberton JG; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Ferrer EA; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Yammine T; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Farra C; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon.; Mohammadi MH; Department of Pediatrics, Zabol University of Medical Sciences, Zabol, Iran.; Ghayoor Karimiani E; 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.; Hashemi N; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Souaid M; Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon.; Sabbagh S; Department of Genetics, Hotel Dieu de France Medical Center, Beirut, Lebanon.; Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Khan S; CENTOGENE GmbH, Rostock, Germany.; Roze E; CNRS, INSERM, Institut du Cerveau (ICM), Sorbonne Université, Paris, 75013, France.; DMU Neurosciences, Hôpital de la Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.; Moreno-De-Luca A; Department of Radiology, Diagnostic Medicine Institute, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, Pennsylvania, USA.; Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.; Balla T; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver NICHD, National Institutes of Health, Bethesda, Maryland, USA.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.

Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE