Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Najarzadeh Torbati, Paria"'
Autor:
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
Publikováno v:
In The American Journal of Human Genetics 7 November 2024 111(11):2566-2581
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
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
Publikováno v:
Genes; Jan2023, Vol. 14 Issue 1, p182, 11p
Autor:
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome including severe speech impairment, cerebral atrophy, and hypotonia as clinical cornerstones. A TTC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d6ec4378beaac7f7152e1f1ea2647d
https://hdl.handle.net/11368/3025987
https://hdl.handle.net/11368/3025987
Autor:
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.
Publikováno v:
Advanced biomedical research [Adv Biomed Res] 2023 Jun 28; Vol. 12, pp. 150. Date of Electronic Publication: 2023 Jun 28 (Print Publication: 2023).
Autor:
Nik A; Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, IRN., Ahangari N; Medicine, Innovative Medical Research Center, Mashhad Medical Sciences, Islamic Azad University, Mashhad, IRN., Najarzadeh Torbati P; Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, IRN., Boostani R; Neurology, Mashhad University of Medical Sciences, Mashhad, IRN., Ghayoor Karimiani E; Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, IRN.
Publikováno v:
Cureus [Cureus] 2022 Dec 17; Vol. 14 (12), pp. e32649. Date of Electronic Publication: 2022 Dec 17 (Print Publication: 2022).
Autor:
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.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2022 Sep; Vol. 9 (9), pp. 1345-1358. Date of Electronic Publication: 2022 Jul 25.
Autor:
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.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. e85.