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Affichage: 2 résultats.
    • Article de périodique
    First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
    Prapa, Matina Lago-Docampo, Mauro Swietlik, Emilia M Montani, David Eyries, Mélanie Humbert, Marc Welch, Carrie L Chung, Wendy K Berger, Rolf M F Bogaard, Harm Jan Danhaive, Olivier[UCL] Escribano-Subías, Pilar Gall, Henning Girerd, Barbara Hernandez-Gonzalez, Ignacio Holden, Simon Hunt, David Jansen, Samara M A Kerstjens-Frederikse, Wilhelmina Kiely, David G Lapunzina, Pablo McDermott, John Moledina, Shahin Pepke-Zaba, Joanna Polwarth, Gary J Schotte, Gwen Tenorio-Castaño, Jair Thompson, A A Roger Wharton, John Wort, Stephen J Megy, Karyn Mapeta, Rutendo Treacy, Carmen M Martin, Jennifer M Li, Wei Swift, Andrew J Upton, Paul D Morrell, Nicholas W Gräf, Stefan Valverde, Diana NIHR BioResource for Translational Research–Rare Diseases National Cohort Study of Idiopathic and Heritable PAH PAH Biobank Enrolling Centers’ Investigators (2022) American journal of respiratory and critical care medicine — Vol. 206, no.12, p. 1522-1533 (2022)
    • Article de périodique
    Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
    Soblet, Julie[UCL] Kangas, Jaakko Nätynki, Marjut Mendola, Antonella[UCL] Helaers, Raphaël[UCL] Uebelhoer, Mélanie Kaakinen, Mika Cordisco, Maria Dompmartin, Anne Enjolras, Odile Holden, Simon Irvine, Alan D Kangesu, Loshan Léauté-Labrèze, Christine Lanoel, Agustina Lokmic, Zerina Maas, Saskia McAleer, Maeve A Penington, Anthony Rieu, Paul Syed, Samira van der Vleuten, Carine Watson, Rosemarie Fishman, Steven J Mulliken, John B Eklund, Lauri Limaye, Nisha Boon, Laurence M.[UCL] Vikkula, Miikka[UCL] (2017) The Journal of Investigative Dermatology — Vol. 137, no. 1, p. 207-216 (2017)