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Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.
Richard, Elodie M; Polla, Daniel L; Assir, Muhammad Zaman; Contreras, Minerva; Shahzad, Mohsin; Khan, Asma A; Razzaq, Attia; Akram, Javed; Tarar, Moazzam N; Blanpied, Thomas A; Ahmed, Zubair M; Abou Jamra, Rami; Wieczorek, Dagmar; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima.
Afiliación
  • Richard EM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6500 HE Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, Brasília DF70040-020, Brazil.
  • Assir MZ; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Col
  • Contreras M; Department of Physiology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Shahzad M; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
  • Khan AA; National Centre of Excellence in Molecular Biology, University of The Punjab, Lahore 53700, Pakistan.
  • Razzaq A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6500 HE Nijmegen, the Netherlands; National Centre of Excellence in Molecular Biology, University of The Punjab, Lahore 53700, Pakistan.
  • Akram J; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan; University of Health Sci
  • Tarar MN; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan.
  • Blanpied TA; Department of Physiology, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
  • Abou Jamra R; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04103 Leipzig, Germany.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, 40225 Düsseldorf, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
  • van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, 6500 HE Nijmegen, the Netherlands.
  • Riazuddin S; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan; National Centre of Excel
  • Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA. Electronic address: sriazuddin@som.umaryland.edu.
Am J Hum Genet ; 105(4): 869-878, 2019 10 03.
Article en En | MEDLINE | ID: mdl-31564433
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Alelos / Genes Recesivos / Discapacidad Intelectual / Metiltransferasas / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Alelos / Genes Recesivos / Discapacidad Intelectual / Metiltransferasas / Microcefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos