Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
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| Published in | Human molecular genetics Vol. 29; no. 5; pp. 877 - 878 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
Oxford University Press
27.03.2020
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0964-6906 1460-2083 1460-2083 |
| DOI | 10.1093/hmg/ddz173 |
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| Author | Baralle, Diana Toribio, Janet Mancini, Grazia M S Philippe, Christophe Mena, Rafael Alkuraya, Fowzan S Marmorstein, Ronen Chen, Zhao Rope, Alan F Rosenheck, Sarah Bhardwaj, Puja Xia, Fan Conway, Simon J Cheng, Hanyin Meng, Linyan Wermuth, Marieke Kooy, R Frank Stessman, Holly Gottlieb, Leah Moutton, Sébastien Blaumeiser, Bettina Bernier, Raphael Marchi, Elaine Lyon, Gholson J Kleyner, Robert Mihajlovic, Ljubisa Kauffmann, Birgit Eyaid, Wafaa Prada, Carlos E |
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| AuthorAffiliation | 30 Department of Biochemistry and Biophysics , Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 3 Abramson Family Cancer Research Institute , Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA 19 Department of Pharmacology , Creighton University Medical School, Omaha, NE 68178, USA 29 GeneInfo , Human Genetics, 18000 Niš, Serbia 9 Génétique des Anomalies du développement , INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France 18 Department of Pediatrics , University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA 23 Department of Medical Genetics , University of Antwerp, Antwerp 2000, Belgium 8 Reference Center for Developmental Anomalies , Department of Medical Genetics, Dijon University Hospital, Dijon, France 20 Department of Psychiatry , University of Washington, Seattle, WA 98195, USA 16 Division Of Neonatology , Cincinnati Children’s Hospital Medical Cente |
| AuthorAffiliation_xml | – name: 26 Department of Clinical Genetics , Erasmus MC University Medical Center, Rotterdam 3015 GD, The Netherlands – name: 6 Kaiser Permanente Center for Health Research , Portland, OR 97227, USA – name: 21 Klinik für Kinder-und Jugendmedizin , Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany – name: 10 Laboratoire de Génétique , Innovation Diagnostic Génomique des Maladies Rares UF6254, Plate-forme de Biologie Hospitalo-Universitaire, Centre Hospitalier Universitaire, Dijon 21070, France – name: 5 Stanley Institute for Cognitive Genomics , Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA – name: 12 Department of Genetics , King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia – name: 30 Department of Biochemistry and Biophysics , Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA – name: 7 Genome Medical , South San Francisco, CA 94080, USA – name: 20 Department of Psychiatry , University of Washington, Seattle, WA 98195, USA – name: 24 Human Development and Health , Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK – name: 17 Division of Human Genetics , Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA – name: 9 Génétique des Anomalies du développement , INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France – name: 4 Department of Human Genetics , New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA – name: 29 GeneInfo , Human Genetics, 18000 Niš, Serbia – name: 3 Abramson Family Cancer Research Institute , Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA – name: 13 Department of Anatomy and Cell Biology , College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia – name: 14 Division of Cardiology , CEDIMAT, Santo Domingo 51000, Dominican Republic – name: 22 University and University Hospital of Antwerp , Antwerp, Belgium – name: 19 Department of Pharmacology , Creighton University Medical School, Omaha, NE 68178, USA – name: 2 Department of Chemistry , University of Pennsylvania, Philadelphia, PA 19104, USA – name: 8 Reference Center for Developmental Anomalies , Department of Medical Genetics, Dijon University Hospital, Dijon, France – name: 16 Division Of Neonatology , Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA – name: 18 Department of Pediatrics , University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA – name: 23 Department of Medical Genetics , University of Antwerp, Antwerp 2000, Belgium – name: 27 HB Wells Center for Pediatric Research , Indiana University School of Medicine, Indianapolis, IN 46202, USA – name: 1 Department of Molecular and Human Genetics , Baylor College of Medicine, Houston, TX 77030, USA – name: 15 Neonatal Intensive Care Unit , Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic – name: 11 King Abdulaziz Medical City , King Saud Bin AbdulAziz University—Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia – name: 25 Wessex Clinical Genetics Service , Princess Anne Hospital, Southampton, UK – name: 28 Baylor Genetics , Houston, TX 77021, USA |
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| Copyright | The Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2020 |
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| References | 31127942 - Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. |
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| Title | Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 |
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