Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Paracha SA"'
Autor:
Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
Publikováno v:
Open Education Studies, Vol 1, Iss 1, Pp 267-280 (2019)
This paper discusses leveraging design thinking techniques for involving children in serious game design in Japanese elementary schools. Our action research project approach accomplished two different goals: (1) to inculcate design thinking in pupils
Externí odkaz:
https://doaj.org/article/ddcace3ad7444aa2a5e4bcb3aa0806fc
Autor:
Paracha SA; Department of Anatomy, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan., Nawaz S; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Tahir Sarwar M; Department of Molecular Biology and Genetics, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan., Shaheen A; Department of Biochemistry, Institute of Medical Sciences (KIMS), Khyber Medical University, Kohat, Pakistan., Zaman G; Department of Computer Science, Abbottabad University of Science and Technology, Havelin, Pakistan., Ahmed J; Department of Microbiology, Khyber Medical University, Institute of Basic Sciences, Peshawar, Pakistan., Shah F; Department of Medicine, District Headquarter Hospital, K.D.A, Kohat, Pakistan., Khwaja S; Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan., Jan A; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan., Khan N; Department of Obstetrics and Gynecology, Hayatabad Medical Complex, Peshawar, Pakistan., Kamal MA; Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Alkharj, Saudi Arabia., Alam Q; Molecular Genomics and Precision Medicine, Express Med Diagnostics and Research, Manama, Bahrain., Abbas S; Department of Biological Science, Dartmouth College, Hanover, NH, United States., Farman S; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan., Waqas A; Department of Zoology, Emerson University, Multan, Pakistan., Alkathiri A; Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences, Albaha University, Albaha, Saudi Arabia., Hamadi A; Faculty of Applied Medical Sciences, Department of Medical Laboratory Technology, University of Tabuk, Tabuk, Saudi Arabia., Santoni F; Service of Endocrinology, Diabetes, and Metabolism, University Hospital of Lausanne, Lausanne, Switzerland.; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.; National Research Council (CNR), Rome, Italy., Ullah N; Institute of Biochemistry, University of Balochistan, Quetta, Pakistan., Khalid B; Faculty of Biosciences, COMSATS University, Islamabad, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Geneva, Switzerland., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Umair M; King Abdullah International Medical Research Center (KAIMRC), Department of Medical Genomics Research, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2024 Aug 30; Vol. 11, pp. 1424753. Date of Electronic Publication: 2024 Aug 30 (Print Publication: 2024).
Autor:
Nawaz H; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Mujahid; Center of Animal Nutrition, Directorate General of Livestock & Dairy Development, Peshawar 25000, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Bibi F; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Waqas A; Department Zoology, Division of Science and Technology, University of Education, Lahore 54782, Pakistan., Bari A; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Fardous; Department of Medical Lab Technology (MLT), Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Khan N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat 28420, Pakistan., Paracha SA; Department of Anatomy, KMU Institute of Medical Sciences (KIMS), Kohat 26000, Pakistan., Alam Q; Molecular Genomics and Precision Medicine, ExpressMed Laboratories, Block Zinj, Manama 359, Bahrain., Kamal MA; Department of Pharmaceutics, College of Pharmacy, Prince Sattam Bin Abdulaziz University, Al-kharj 11942, Saudi Arabia., Rafeeq MM; Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah 21589, Saudi Arabia., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Haq FU; Department of Radiological Sciences, College of Applied Medical Sciences, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 12271, Saudi Arabia., Khan S; Hafeez Institute of Medical Sciences, Islamabad 44000, Pakistan.; Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad 44000, Pakistan., Mahmood A; Center for Medical Genetics, Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha 410078, China., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology (KUST), Kohat 26000, Pakistan., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh 12271, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore 14611, Pakistan.
Publikováno v:
Genes [Genes (Basel)] 2023 May 19; Vol. 14 (5). Date of Electronic Publication: 2023 May 19.
Autor:
Mao K; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Borel C; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004, Lausanne, Switzerland., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Froehlich C; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland., Wang B; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Xu X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Li Q; Department of Plastic Surgery, Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, China., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Zhu H; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Chen Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Jin F; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Ankamreddy H; Department of Biotechnology, School of Bioengineering, SRMIST, Kattankulathur, Tamilnadu, 603203, India., Singh S; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Wang X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Chen P; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Paracha SA; Anatomy Department, Khyber Medical University Institute of Medical Sciences (KIMS), Kohat, Pakistan., Shah SF; Department of Medicine, KMU Institute of Medical Sciences (KIMS), DHQ Hospital KDA, Kohat, Pakistan., Guida V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Melis D; Department of Medicine, Surgery, and Dentistry, Università University degli of Studi di Salerno, Salerno, Italy., Dallapiccola B; Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Digilio MC; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Novelli A; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Magliozzi M; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Fadda MT; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges, 1066, Switzerland., Squeo GM; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Mancano G; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Gori G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Mariani M; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Selicorni A; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Psoni S; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Marlin S; Centre de Référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Biskup S; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy., Zhao S; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Cox TC; Departments of Oral & Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City, Kansas City, MO, 64108, USA., Groves AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China. plastic135@126.com., Zhang YB; School of Engineering Medicine, Beihang University, Beijing, 100191, China. zhangyongbiao@buaa.edu.cn.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China. zhangyongbiao@buaa.edu.cn., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland. stylianos.antonarakis@unige.ch.; iGE3 Institute of Genetics and Genomes in Geneva, Geneva, Switzerland. stylianos.antonarakis@unige.ch.
Publikováno v:
Nature communications [Nat Commun] 2023 Apr 11; Vol. 14 (1), pp. 2026. Date of Electronic Publication: 2023 Apr 11.
Autor:
Rao AR; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Nazir A; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Imtiaz S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Waryah YM; Scientific and Ophthalmic Research Laboratory, Sindh Institute of Ophthalmology and Visual Sciences, Hyderabad 71000, Pakistan., Ujjan ID; Department of Pathology, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Anwar I; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland., Iqbal A; Department of Zoology, Lahore College for Women University, Lahore 54810, Pakistan., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; Department of Endocrinology Diabetes and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland., Shah I; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Gul K; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.; Department of BioSciences, Faculty of Life Science, Mohammad Ali Jinnah University, Karachi 75400, Pakistan., Baig HMA; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland.; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur 63080, Pakistan., Waryah AM; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro 76090, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, 1004 Lausanne, Switzerland.; Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland.; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi 74200, Pakistan.
Publikováno v:
Genes [Genes (Basel)] 2023 Feb 03; Vol. 14 (2). Date of Electronic Publication: 2023 Feb 03.
Autor:
Shah SF; Department of Medicine, Khyber Medical University, Peshawar - Pakistan., Paracha SA; Department of Anatomy, Khyber Medical University, Peshawar - Pakistan., Ullah W; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Muhammad I; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Iqbal S; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Gul A; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Hussain M; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Ullah H; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan., Zaman S; Department of Microbiology, Kohat University of Science and Technology, Kohat - Pakistan.
Publikováno v:
Drug target insights [Drug Target Insights] 2022 Dec 19; Vol. 16, pp. 49-53. Date of Electronic Publication: 2022 Dec 19 (Print Publication: 2022).
Autor:
Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Paracha SA; Anatomy Department, Khyber Medical University Institute of Medical Sciences (KIMS), Kohat, Pakistan., Tafakhori A; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran., Firouzabadi SG; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Chapi M; Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran., Baig HMA; Department of Biotechnology, Institute of Biochemistry, Biotechnology and Bioinformatics, The Islamia University of Bahawalpur, Bahawalpur, Pakistan., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland. alexandre.reymond@unil.ch., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland. stylianos.antonarakis@unige.ch., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004, Lausanne, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2021 Nov 11; Vol. 6 (1), pp. 94. Date of Electronic Publication: 2021 Nov 11.
Autor:
Manole A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., O'Connor E; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Jennings M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0QQ UK., Maroofian R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Davagnanam I; Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Lopez MR; Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London (UCL), London, WC1E 6BT, UK., Salpietro V; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Harripaul R; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, ON, M5T 1R8, Canada; Institute of Medical Science and Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Badalato L; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Walia J; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Francklyn CS; Department of Biochemistry, University of Vermont College of Medicine, Burlington, VT 05405, USA., Athanasiou-Fragkouli A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Sullivan R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Desai S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Baranano K; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Zafar F; Department of Pediatrics, Multan Hospital, Multan, 60000, Pakistan., Rana N; Department of Pediatrics, Multan Hospital, Multan, 60000, Pakistan., Ilyas M; University of Islamabad, Islamabad, 45320, Pakistan., Horga A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Kara M; Department of Pediatrics, Tripoli Children's Hospital, Tripoli, Libya., Mattioli F; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Goldenberg A; Département de Génétique, centre de référence anomalies du développement et syndromes malformatifs, CHU de Rouen, Inserm U1245, UNIROUEN, Normandie Université, Centre Normand de Génomique et de Médecine Personnalisée, Rouen, 76031, France., Griffin H; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0QQ UK., Piton A; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Henderson LB; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Kara B; Bezmiâlem Vakıf Üniversitesi, Istanbul, 34093, Turkey., Aslanger AD; Bezmiâlem Vakıf Üniversitesi, Istanbul, 34093, Turkey., Raaphorst J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Department of Neurology, Amsterdam Neuroscience Institute, Amsterdam University Medical Center, 1105AZ Amsterdam, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Portier R; Department of Neurology, Medisch Spectrum Twente, 7512KZ Enschede, the Netherlands., Shinawi M; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Kirby A; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Christensen KM; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Wang L; Howard Hughes Medical Institute, University of California San Diego and Rady Children's Hospital, La Jolla, CA 92130, USA., Rosti RO; Howard Hughes Medical Institute, University of California San Diego and Rady Children's Hospital, La Jolla, CA 92130, USA., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Jenkins D; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Department of Endocrinology, Diabetes, and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, The Swiss Institute of Genomic Medicine, Geneva, CH-1207, Switzerland., Iwaszkiewicz J; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, Lausanne, CH-1015, Switzerland., Cytrynbaum C; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, 555 University Ave., Toronto, M5G 1X8, Canada., Weksberg R; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, 555 University Ave., Toronto, M5G 1X8, Canada., Wentzensen IM; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Si Y; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Andrews MV; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Baldridge D; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Gabriel H; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Mohr J; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Oehl-Jaschkowitz B; Biomedical Centre Cardinal-Wendel-Straße 14, 66424 Hamburg, Germany., Debard S; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Senger B; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Fischer F; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., van Ravenwaaij C; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, 9713, the Netherlands., Fock AJM; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, 9713, the Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, 6211, the Netherlands., Bähler J; Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London (UCL), London, WC1E 6BT, UK., Nasar A; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Mantovani JF; Division of Child Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Manzur A; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Sarkozy A; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Ahmed ZM; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Riazuddin S; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan., Riazuddin S; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Usmani MA; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Seibt A; Department of General Pediatrics, Heinrich-Heine-University, Moorenstr. 5, 40225 Düsseldorf, Germany., Ansar M; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Institute of Molecular and Clinical Ophthalmology Basel, Basel Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland., Vincent JB; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, ON, M5T 1R8, Canada; Institute of Medical Science and Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Ayub M; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany., Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, 2100, Denmark., Hjortshøj TD; 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University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Mandel JL; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 311-324. Date of Electronic Publication: 2020 Jul 31.
Autor:
Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald 17475, Germany., Özkoç H; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Gesemann M; Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges 1066, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne 1011, Switzerland., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald 17475, Germany., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland.; Department of Molecular Life Sciences, University of Zurich, Zurich 8057, Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 May 08; Vol. 29 (7), pp. 1132-1143.