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Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Alawbathani, Salem; Westenberger, Ana; Ordonez-Herrera, Natalia; Al-Hilali, Mariam; Al Hebby, Homoud; Alabbas, Fahad; Alhashem, Amal M; Elyamany, Ghaleb; Megarbane, André; Kose, Melis; Alhashmi, Nadia; Al Sukaiti, Nashat; Al-Raqad, Mohammed; Al-Tawalbeh, Samah; Abu Adas Blanco, Omar; Alkhattabi, Fadiah; Sng, Danielle; Al-Ali, Ruslan; Khan, Suliman; Tawamie, Hasan; Tripolszki, Kornelia; Karageorgou, Vasiliki; Trunzo, Roberta; Al Mutairi, Fuad; Reversade, Bruno; Bauer, Peter; Bertoli-Avella, Aida M.
Afiliação
  • Alawbathani S; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Westenberger A; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Ordonez-Herrera N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
  • Al-Hilali M; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Al Hebby H; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alabbas F; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alhashem AM; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Elyamany G; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Megarbane A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Kose M; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon.
  • Alhashmi N; Division of Medical Genetics, Institut Jerome Lejeune, Paris, France.
  • Al Sukaiti N; Department of Pediatrics, Division of Inborn Errors of Metabolism, Izmir Katip Çelebi University Medical Faculty, Izmir, Turkey.
  • Al-Raqad M; Ege University Medical Faculty, Department of Pediatrics, Division of Genetics, Izmir, Turkey.
  • Al-Tawalbeh S; Clinical and Biochemical Genetics Department, Child Health Department, Royal Hospital, Muscat, Oman.
  • Abu Adas Blanco O; Allergy and Clinical Immunology Department, Child Health Department, Royal Hospital, Muscat, Oman.
  • Alkhattabi F; Al-Balqa Applied University, Faculty of Medicine, Al-Salt, Jordan.
  • Sng D; Queen Rania Al-Abdulla Children Hospital, King Hussein Medical Center, Amman, Jordan.
  • Al-Ali R; Clinical Genetics department, The Genome Outpost, Amman, Jordan.
  • Khan S; College of Medicine at Alfaisal University, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Tawamie H; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore.
  • Tripolszki K; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Karageorgou V; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Trunzo R; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Al Mutairi F; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Reversade B; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Bauer P; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
  • Bertoli-Avella AM; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.
Clin Genet ; 101(2): 247-254, 2022 02.
Article em En | MEDLINE | ID: mdl-34708404
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Doenças da Imunodeficiência Primária / Doenças Hematológicas / Mutação / Antígenos de Neoplasias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Alelos / Doenças da Imunodeficiência Primária / Doenças Hematológicas / Mutação / Antígenos de Neoplasias Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha