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Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler, Brooke; Haller, Gabe; Antunes, Lilian; Bledsoe, Xavier; Morcuende, Jose; Giampietro, Philip; Raggio, Cathleen; Miller, Nancy; Kidane, Yared; Wise, Carol A; Amarillo, Ina; Walton, Nephi; Seeley, Mark; Johnson, Darren; Jenkins, Conner; Jenkins, Troy; Oetjens, Matthew; Tong, R Spencer; Druley, Todd E; Dobbs, Matthew B; Gurnett, Christina A.
Afiliación
  • Sadler B; Department of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Haller G; Department of Orthopedic Surgery, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Antunes L; Department of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Bledsoe X; Department of Neurology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Morcuende J; Department of Orthopaedic Surgery and Rehabilitation, University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, Iowa, USA.
  • Giampietro P; Department of Genetics, St. Christopher's Hospital for Children, Philadelphia, Pennsylvania, USA.
  • Raggio C; Orthopedic Surgery, Pediatrics, Hospital for Special Surgery, New York City, New York, USA.
  • Miller N; Department of Orthopedics, University of Colorado at Denver - Anschutz Medical Campus, Aurora, Colorado, USA.
  • Kidane Y; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
  • Wise CA; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
  • Amarillo I; Department of Pathology and Immunology, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Walton N; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Seeley M; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Johnson D; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Jenkins C; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Jenkins T; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Oetjens M; Genomic Medicine, Geisinger Health System, Danville, Pennsylvania, USA.
  • Tong RS; Department of Pediatrics, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Druley TE; Department of Pediatrics, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Dobbs MB; Department of Orthopedic Surgery, Washington University in Saint Louis School of Medicine, St. Louis, Missouri, USA.
  • Gurnett CA; Department of Neurology, Division of Pediatric Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
J Med Genet ; 56(7): 427-433, 2019 07.
Article en En | MEDLINE | ID: mdl-30803986
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Cromosomas Humanos Par 16 / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Estudios de Asociación Genética / Duplicación Cromosómica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Cromosomas Humanos Par 16 / Predisposición Genética a la Enfermedad / Proteínas Adaptadoras Transductoras de Señales / Estudios de Asociación Genética / Duplicación Cromosómica Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido