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B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Maroofian, Reza; Riemersma, Moniek; Jae, Lucas T; Zhianabed, Narges; Willemsen, Marjolein H; Wissink-Lindhout, Willemijn M; Willemsen, Michèl A; de Brouwer, Arjan P M; Mehrjardi, Mohammad Yahya Vahidi; Ashrafi, Mahmoud Reza; Kusters, Benno; Kleefstra, Tjitske; Jamshidi, Yalda; Nasseri, Mojila; Pfundt, Rolph; Brummelkamp, Thijn R; Abbaszadegan, Mohammad Reza; Lefeber, Dirk J; van Bokhoven, Hans.
Afiliação
  • Maroofian R; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Riemersma M; Department of Neurology, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Jae LT; Department of Laboratory Medicine, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Zhianabed N; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Willemsen MH; Gene Center and Department of Biochemistry, Ludwig-Maximilians-Universität München, Feodor-Lynen-Straße 25, 81377, Munich, Germany.
  • Wissink-Lindhout WM; Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
  • Willemsen MA; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • de Brouwer APM; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Mehrjardi MYV; Department of Neurology, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Ashrafi MR; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Kusters B; Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
  • Kleefstra T; Department of Child Neurology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
  • Jamshidi Y; Department of Pathology, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Nasseri M; Department of Pathology, Maastricht University Medical Centre, 6229 HX, Maastricht, The Netherlands.
  • Pfundt R; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
  • Brummelkamp TR; Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, London, SW17 0RE, UK.
  • Abbaszadegan MR; Pardis Clinical and Genetics Laboratory, Mashhad, Iran.
  • Lefeber DJ; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
  • van Bokhoven H; Department of Human Genetics 855, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
Genome Med ; 9(1): 118, 2017 12 22.
Article em En | MEDLINE | ID: mdl-29273094
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / N-Acetilgalactosaminiltransferases / Síndrome de Walker-Warburg / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Genome Med Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / N-Acetilgalactosaminiltransferases / Síndrome de Walker-Warburg / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Genome Med Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido