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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts, Peer; Simons, Annet; AlZahrani, Mofareh S; Yilmaz, Elanur; AlIdrissi, Eman; van Aerde, Koen J; Alenezi, Njood; AlGhamdi, Hamza A; AlJubab, Hadeel A; Al-Hussaini, Abdulrahman A; AlManjomi, Fahad; Alsaad, Alaa B; Alsaleem, Badr; Andijani, Abdulrahman A; Asery, Ali; Ballourah, Walid; Bleeker-Rovers, Chantal P; van Deuren, Marcel; van der Flier, Michiel; Gerkes, Erica H; Gilissen, Christian; Habazi, Murad K; Hehir-Kwa, Jayne Y; Henriet, Stefanie S; Hoppenreijs, Esther P; Hortillosa, Sarah; Kerkhofs, Chantal H; Keski-Filppula, Riikka; Lelieveld, Stefan H; Lone, Khurram; MacKenzie, Marius A; Mensenkamp, Arjen R; Moilanen, Jukka; Nelen, Marcel; Ten Oever, Jaap; Potjewijd, Judith; van Paassen, Pieter; Schuurs-Hoeijmakers, Janneke H M; Simon, Anna; Stokowy, Tomasz; van de Vorst, Maartje; Vreeburg, Maaike; Wagner, Anja; van Well, Gijs T J; Zafeiropoulou, Dimitra; Zonneveld-Huijssoon, Evelien; Veltman, Joris A; van Zelst-Stams, Wendy A G; Faqeih, Eissa A; van de Veerdonk, Frank L.
Afiliação
  • Arts P; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Simons A; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.
  • AlZahrani MS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Yilmaz E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • AlIdrissi E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Aerde KJ; Department of Medical Biology, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
  • Alenezi N; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • AlGhamdi HA; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • AlJubab HA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Al-Hussaini AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • AlManjomi F; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alsaad AB; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alsaleem B; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Andijani AA; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Asery A; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Ballourah W; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Bleeker-Rovers CP; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • van Deuren M; Department of Pediatric Hematology and Oncology, Comprehensive Cancer center, King Fahad Medical City, Riyadh, Saudi Arabia.
  • van der Flier M; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gerkes EH; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Habazi MK; Department of Pediatric Infectious Diseases and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Hehir-Kwa JY; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
  • Henriet SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoppenreijs EP; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Hortillosa S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kerkhofs CH; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
  • Keski-Filppula R; Department of Pediatric immunology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lelieveld SH; Department of Pediatric Rheumatology, Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lone K; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • MacKenzie MA; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Mensenkamp AR; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.
  • Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • Nelen M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ten Oever J; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
  • Potjewijd J; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • van Paassen P; Department of Hematology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schuurs-Hoeijmakers JHM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Simon A; PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland.
  • Stokowy T; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland.
  • van de Vorst M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Vreeburg M; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wagner A; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Well GTJ; Department of Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Zafeiropoulou D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Zonneveld-Huijssoon E; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Veltman JA; Department of Clinical Science, Department of Informatics, Computational Biology Unit, University of Bergen, 5020, Bergen, Norway.
  • van Zelst-Stams WAG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Faqeih EA; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • van de Veerdonk FL; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Genome Med ; 11(1): 38, 2019 06 17.
Article em En | MEDLINE | ID: mdl-31203817
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento do Exoma / Doenças da Imunodeficiência Primária Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Sequenciamento do Exoma / Doenças da Imunodeficiência Primária Idioma: En Ano de publicação: 2019 Tipo de documento: Article