Zobrazeno 1 - 10 of 6 709 pro vyhledávání: '"Reardon, W"'
6
Akademický článek
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Autor: Husain RA; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany., Jiao X; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA., Hennings JC; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany., Giesecke J; Department of Anaesthesiology and Intensive Care Medicine, Jena University Hospital, Member of the Leibniz Center for Photonics in Infection Research (LPI), 07747 Jena, Germany., Palsule G; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA., Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Osmanović D; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany., Bjørgo K; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Mir A; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan., Ilyas M; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan., Abbasi SM; Department of Biological Sciences, Faculty of Sciences, International Islamic University, Islamabad 44000, Pakistan., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK., Rankin J; Department of Clinical Genetics, Royal Devon University Hospital, Exeter, EX1 2ED, UK., Pagnamenta AT; Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, OX3 7BN, UK., Nashabat M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Altwaijri W; Department of Pediatrics, Neurology Division, King Abdullah Specialist Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia., Khouj E; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Reardon W; Blackrock Clinic, Dublin, A94 E4X7, Ireland., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, 27272, Sharjah, United Arab Emirates.; Department of Pediatrics, University Hospital Sharjah, 72772, Sharjah, United Arab Emirates., Mekki M; Department of Pediatrics, University Hospital Sharjah, 72772, Sharjah, United Arab Emirates., Houge G; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Beetz C; Centogene GmbH, 18055 Rostock, Germany., Bauer P; Centogene GmbH, 18055 Rostock, Germany., Putoux A; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, Univ Lyon, Univ Lyon 1, INSERM U1028 CNRS UMR5292, 69008 Lyon, France., Lesca G; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Physiopathologie et Génétique du Neurone et du Muscle, Univ Lyon, Univ Lyon 1, CNRS, INSERM, UMR5261, U1315, Institut NeuroMyoGène, 69008 Lyon, France., Sanlaville D; Groupement Hospitalier Est, Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, 69677 Bron Cedex, France.; Physiopathologie et Génétique du Neurone et du Muscle, Univ Lyon, Univ Lyon 1, CNRS, INSERM, UMR5261, U1315, Institut NeuroMyoGène, 69008 Lyon, France., Alkuraya FS; Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Mentzel HJ; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Section of Pediatric Radiology, Department of Radiology, Jena University Hospital, 07747 Jena, Germany., Hübner CA; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany.; Institute of Human Genetics, Jena University Hospital, 07747 Jena, Germany., Huppke P; Department of Neuropediatrics, Jena University Hospital, 07747 Jena, Germany.; Center for Rare Diseases, Jena University Hospital, 07747 Jena, Germany., Hart RP; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany., Kiledjian M; Department of Cell Biology and Neuroscience, Rutgers University, Piscataway, NJ 08854, USA., Rubio I; Department of Anaesthesiology and Intensive Care Medicine, Jena University Hospital, Member of the Leibniz Center for Photonics in Infection Research (LPI), 07747 Jena, Germany.; Center for Sepsis Control and Care, Jena University Hospital, 07747 Jena, Germany.
Publikováno v: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1197-1205.
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7
Akademický článek
Synpolydactyly Phenotypes Correlate with Size of Expansions in HOXD13 Polyalanine Tract
Autor: Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., Majewski, F., McGaughran, J., McKeown, C., Reardon, W., Upton, J., Winter, R. M., Olsen, B. R., Scambler, P. J.
Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 1997 Jul 01. 94(14), 7458-7463.
Externí odkaz: https://www.jstor.org/stable/42700
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8
Akademický článek
For the Integration of Television, Speech, and Dramatic Arts
Autor: Harshbarger, H. Clay, Reardon, W. R.
Publikováno v: Educational Theatre Journal, 1956 Dec 01. 8(4), 306-310.
Externí odkaz: https://www.jstor.org/stable/3203609
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9
Akademický článek
MOGS-CDG: Quantitative analysis of the diagnostic Glc 3 Man tetrasaccharide and clinical spectrum of six new cases.
Autor: Post MA; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., de Wit I; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands., Zijlstra FSM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Engelke UFH; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Christodoulou J; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia., Tan TY; Genomic Medicine Research Theme, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Le Fevre A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Jin D; Pediatric Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, China., Yaplito-Lee J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Parkville, Australia., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea., Low KJ; School of Clinical Sciences, University of Bristol, Bristol, UK.; Clinical Genetics, St. Michael's Hospital, University Hospitals NHS Trust, Bristol, UK., Mallick AA; Department of Pediatric Neurology, Bristol Royal Hospital for Children, Bristol, UK., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Pitt J; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Reardon W; Clinical Genetics, Children's Health Ireland (CHI), Crumlin, Ireland., Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Wortmann SB; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Wessels HJCT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bärenfänger M; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Division of Bioanalytical Chemistry, VU Amsterdam, Amsterdam, The Netherlands., van Karnebeek CDM; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Lefeber DJ; Department of Neurology, Donders institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of United for Metabolic Diseases, Amsterdam, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 313-325. Date of Electronic Publication: 2023 Feb 01.
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10
Akademický článek
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