AttributesValues
Author
Bibliographic Citation
  • Ziegler Alban, DUCLAUX-LORAS Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Guihot Anne Laure, Desquiret-Dumas Valérie, Zarhrate Mohammed, Cagnard Nicolas, Mas Emmanuel, Breton Anne, Edouard Thomas, Billon Clarisse, Frank Michael, Colin Estelle, Lenaers Guy, Henrion Daniel, Lyonnet Stanislas, Faivre Laurence, Alembik Yves, Philippe Anaïs, Moulin Bruno, Reinstein Eyal, Tzur Shay, Attali Ruben, McGillivray George, White Susan, Gallacher Lyndon, Kutsche Kerstin, Schneeberger Pauline, Girisha Katta, Nayak Shalini, Pais Lynn, Maroofian Reza, Rad Aboulfazl, Vona Barbara, Karimiani Ehsan Ghayoor, Lekszas Caroline, Haaf Thomas, Martin Ludovic, Ruemmele Frank, Bonneau Dominique, Cerf-Bensussan Nadine, Del Bene Filippo, Parlato Marianna. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩
  • Ziegler Alban, DUCLAUX-LORAS Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Desquiret-Dumas Valérie, Zarhrate Mohammed, Mas Emmanuel. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩
  • Ziegler Alban, Duclaux-Loras Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Guihot Anne Laure, Desquiret-Dumas Valérie, Zarhrate Mohammed, Cagnard Nicolas, Mas Emmanuel, Breton Anne, Edouard Thomas, Billon Clarisse, Frank Michael, Colin Estelle, Lenaers Guy, Henrion Daniel, Lyonnet Stanislas, Faivre Laurence, Alembik Yves, Philippe Anaïs, Moulin Bruno, Reinstein Eyal, Tzur Shay, Attali Ruben, Mcgillivray George, White Susan, Gallacher Lyndon, Kutsche Kerstin, Schneeberger Pauline, Girisha Katta, Nayak Shalini, Pais Lynn, Maroofian Reza, Rad Aboulfazl, Vona Barbara, Karimiani Ehsan Ghayoor, Lekszas Caroline, Haaf Thomas, Martin Ludovic, Ruemmele Frank, Bonneau Dominique, Cerf-Bensussan Nadine, del Bene Filippo, Parlato Marianna . Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation . American Journal of Human Genetics, 2021, 108 (6), pp.1126-1137 . ⟨10.1016/j.ajhg.2021.04.020⟩
  • Ziegler Alban, Duclaux-Loras Rémi, Revenu Céline, Charbit-Henrion Fabienne, Begue Bernadette, Duroure Karine, Grimaud Linda, Guihot Anne Laure, Desquiret-Dumas Valérie, Zarhrate Mohammed, Cagnard Nicolas, Mas Emmanuel, Breton Anne, Edouard Thomas, Billon Clarisse, Frank Michael, Colin Estelle, Lenaers Guy, Henrion Daniel, Lyonnet Stanislas, Faivre Laurence, Alembik Yves, Philippe Anaïs, Moulin Bruno, Reinstein Eyal, Tzur Shay, Attali Ruben, Mcgillivray George, White Susan, Gallacher Lyndon, Kutsche Kerstin, Schneeberger Pauline, Girisha Katta, Nayak Shalini, Pais Lynn, Maroofian Reza, Rad Aboulfazl, Vona Barbara, Karimiani Ehsan Ghayoor, Lekszas Caroline, Haaf Thomas, Martin Ludovic, Ruemmele Frank, Bonneau Dominique, Cerf-Bensussan Nadine, del Bene Filippo, Parlato Marianna. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American Journal of Human Genetics, 2021, 108 (6), pp.1126-1137. ⟨10.1016/j.ajhg.2021.04.020⟩
Title
  • Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
dc:date
  • 2021
Digital Object Identifier (DOI)
  • 10.1016/j.ajhg.2021.04.020
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