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Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Au, P Y Billie; Goedhart, Caitlin; Ferguson, Marcia; Breckpot, Jeroen; Devriendt, Koenraad; Wierenga, Klaas; Fanning, Elizabeth; Grange, Dorothy K; Graham, Gail E; Galarreta, Carolina; Jones, Marilyn C; Kini, Usha; Stewart, Helen; Parboosingh, Jillian S; Kline, Antonie D; Innes, A Micheil.
Afiliación
  • Au PYB; Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada. billie.au@ahs.ca.
  • Goedhart C; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada. billie.au@ahs.ca.
  • Ferguson M; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Breckpot J; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA.
  • Devriendt K; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Wierenga K; Center for Human Genetics, Catholic University Leuven, Leuven, Belgium.
  • Fanning E; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Science Center, Oklahoma City, OK, USA.
  • Grange DK; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Science Center, Oklahoma City, OK, USA.
  • Graham GE; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Galarreta C; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
  • Jones MC; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Kini U; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA, USA.
  • Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Parboosingh JS; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Kline AD; Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada.
  • Innes AM; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Eur J Hum Genet ; 26(9): 1272-1281, 2018 09.
Article en En | MEDLINE | ID: mdl-29904177
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Ribonucleoproteína Heterogénea-Nuclear Grupo K / Discapacidad Intelectual Límite: Adult / Child / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Ribonucleoproteína Heterogénea-Nuclear Grupo K / Discapacidad Intelectual Límite: Adult / Child / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Canadá