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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Karaca, Ender; Posey, Jennifer E; Bostwick, Bret; Liu, Pengfei; Gezdirici, Alper; Yesil, Gozde; Coban Akdemir, Zeynep; Bayram, Yavuz; Harms, Frederike L; Meinecke, Peter; Alawi, Malik; Bacino, Carlos A; Sutton, V Reid; Kortüm, Fanny; Lupski, James R.
Afiliación
  • Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Liu P; Texas Children's Hospital, Baylor College of Medicine, Houston, Texas.
  • Gezdirici A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Yesil G; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Coban Akdemir Z; Department of Medical Genetics, Bezmialem University, Istanbul, Turkey.
  • Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Harms FL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Meinecke P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Alawi M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bacino CA; Bioinformatics Service Facility, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Sutton VR; Center for Bioinformatics, University of Hamburg, Hamburg, Germany.
  • Kortüm F; Heinrich Pette Institute, Leibniz Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 179(10): 2056-2066, 2019 10.
Article en En | MEDLINE | ID: mdl-31407851
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Huesos / Proteínas Nucleares / Ciclo Celular / Proteínas de Ciclo Celular / Enanismo / Alelos / Microcefalia Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Huesos / Proteínas Nucleares / Ciclo Celular / Proteínas de Ciclo Celular / Enanismo / Alelos / Microcefalia Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article