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A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.
Kruszka, Paul; Berger, Seth I; Weiss, Karin; Everson, Joshua L; Martinez, Ariel F; Hong, Sungkook; Anyane-Yeboa, Kwame; Lipinski, Robert J; Muenke, Maximilian.
Afiliação
  • Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Berger SI; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Rare Disease Institute, Genetics and Metabolism, Children's National Health System, Washington, DC 20036, USA.
  • Weiss K; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Everson JL; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Martinez AF; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Hong S; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
  • Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA; Molecular and Environmental Toxicology Center, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI 53706, USA.
  • Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: mamuenke@mail.nih.gov.
Am J Hum Genet ; 104(5): 990-993, 2019 05 02.
Article em En | MEDLINE | ID: mdl-31006510
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Holoprosencefalia / Prosencéfalo / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Holoprosencefalia / Prosencéfalo / Mutação de Sentido Incorreto Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Estados Unidos