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  1. 1
    Academic Journal
    Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.

    المؤلفون: Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., Vikkula, Miikka

    المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales

    المصدر: Circulation, Vol. 136, no. 11, p. 1037-1048 (2017)

    مصطلحات موضوعية: Arteriovenous fistula, Arteriovenous malformation, Capillary, Genetics, Linkage, Vascular disease, Vascular endothelial function, Venous

    Relation: boreal:183933; http://hdl.handle.net/2078.1/183933; info:pmid/28687708; urn:ISSN:0009-7322; urn:EISSN:1524-4539

    الاتاحة: http://hdl.handle.net/2078.1/183933
    https://doi.org/10.1161/CIRCULATIONAHA.116.026886

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  2. 2
    Electronic Resource
    Germline Loss-of-Function Mutations in EPHB4 cause a Second Form of Capillary Malformation–Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling.

    المؤلفون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/GEHU - Génétique, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Service de chirurgie plastique, UCL - (SLuc) Centre de malformations vasculaires congénitales, Amyere, Mustapha, Revencu, Nicole, Helaers, Raphaël, Pairet, Eleonore, Baselga, Eulalia, Cordisco, Maria, Chung, Wendy, Dubois, Josée, Lacour, Jean-Philippe, Martorell, Loreto, Mazereeuw-Hautier, Juliette, Pyeritz, Reed E., Amor, David J., Bisdorff, Anouck, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David J., Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gerard, Marion, Kvarnung, Malin, Kwan Hanson-Kahn, Andrea, Hudgins, Louanne, Leaute-Labreze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Petit, Florence, Phan, Alice, Quere, Isabelle, Salhi, Aicha, Turner, Anne, Vabres, Pierre, Vicente, Asuncion, Wargon, Orli, Watanabe, Shoji, Weibel, Lisa, Wilson, Ashley, Willing, Marcia, Mulliken, John B., Boon, Laurence M., Vikkula, Miikka

    المصدر: Circulation, Vol. 136, no. 11, p. 1037-1048 (2017)

    مصطلحات الفهرس: Arteriovenous fistula, Arteriovenous malformation, Capillary, Genetics, Linkage, Vascular disease, Vascular endothelial function, Venous, info:eu-repo/semantics/article

    URL: http://hdl.handle.net/2078.1/183933

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