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KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.
Guo, Lily; Park, Jiyeon; Yi, Edward; Marchi, Elaine; Hsieh, Tzung-Chien; Kibalnyk, Yana; Moreno-Sáez, Yolanda; Biskup, Saskia; Puk, Oliver; Beger, Carmela; Li, Quan; Wang, Kai; Voronova, Anastassia; Krawitz, Peter M; Lyon, Gholson J.
Afiliação
  • Guo L; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
  • Park J; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
  • Yi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
  • Marchi E; Department of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
  • Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.
  • Kibalnyk Y; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada.
  • Moreno-Sáez Y; Department of Cell Biology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada.
  • Biskup S; Medical Genetic Unit, Sistemas Genómicos, Valencia, Spain.
  • Puk O; CeGaT GmbH, Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Beger C; CeGaT GmbH, Praxis für Humangenetik Tübingen, Tübingen, Germany.
  • Li Q; MVZ Labor Krone GbR, Filialpraxis für Humangenetik, Bielefeld, Germany.
  • Wang K; Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, M5G2C1, Canada.
  • Voronova A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.
  • Krawitz PM; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada.
  • Lyon GJ; Department of Cell Biology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, Canada.
Eur J Hum Genet ; 30(11): 1244-1254, 2022 11.
Article em En | MEDLINE | ID: mdl-35970914
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Guideline / Screening_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Anormalidades Múltiplas / Doenças do Desenvolvimento Ósseo / Transtorno do Espectro Autista / Deficiência Intelectual Tipo de estudo: Guideline / Screening_studies Limite: Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Estados Unidos