المؤلفون: Afshar, Yalda, Ma, Feyiang, Quach, Austin, Jeong, Anhyo, Sunshine, Hannah L, Freitas, Vanessa, Jami-Alahmadi, Yasaman, Helaers, Raphael, Li, Xinmin, Pellegrini, Matteo, Wohlschlegel, James A, Romanoski, Casey E, Vikkula, Miikka, Iruela-Arispe, M Luisa

الإتاحة: https://doi.org/10.7554/elife.81370.sa2Test

المؤلفون: Basha, Mirta, Demeer, Bénédicte, Revencu, Nicole, Helaers, Raphael, Theys, Stephanie, Bou Saba, Sami, Boute, Odile, Devauchelle, Bernard, Francois, Geneviève, Bayet, Bénédicte, Vikkula, Miikka

المساهمون: UCL - SSS/DDUV - Institut de Duve

المصدر: Journal of Medical Genetics, Vol. 55, no. 7, p. 449-58 (2018)

مصطلحات موضوعية: 22qdel, EEC, NGS, Van der Woude, WES, cleft, craniofacial syndrome, expanded spectrum of syCL/P, gene, mutation, nsCL/P, phenotype, syCL/P, syndrome, tooth agenesis (oligodontia), transcription factor

العلاقة: boreal:199972; http://hdl.handle.net/2078.1/199972Test; info:pmid/29500247; urn:ISSN:0022-2593; urn:EISSN:1468-6244

الإتاحة: https://doi.org/10.1136/jmedgenet-2017-105110Test
http://hdl.handle.net/2078.1/199972Test

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, Annouk, Blei, Francine, Bombei, Hannah, Dompmartin, Anne, Brooks, David, Dupont, Juliette, González-Enseñat, Maria Antonia, Frieden, Ilona, Gérard, Marion, Kvarnung, Malin, Hanson-Kahn, Andrea Kwan, Hudgins, Louanne, Léauté-Labrèze, Christine, McCuaig, Catherine, Metry, Denise, Parent, Philippe, Paul, Carle, Weibel, Lisa, Vikkula, Miikka

المصدر: 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, Annouk; Blei, Francine; Bombei, Hannah; Dompmartin, Anne; Brooks, David; Dupont, Juliette; González-Enseñat, Maria Antonia; Frieden, Ilona; Gérard, Marion; Kvarnung, Malin; Hanson-Kahn, Andrea Kwan; Hudgins, Louanne; Léauté-Labrèze, Christine; McCuaig, Catherine; Metry, Denise; Parent, Philippe; Paul, Carle; Weibel, Lisa; et al; Vikkula, Miikka (2017). Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation, 136(11):1037-1048.

مصطلحات موضوعية: Dermatology Clinic, Clinic for Surgery, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/144457/1/Circulation_2017.pdfTest; https://www.zora.uzh.ch/id/eprint/144457/8/ZORA144457.pdfTest; info:pmid/28687708; urn:issn:0009-7322

الإتاحة: https://doi.org/10.5167/uzh-14445710.1161/CIRCULATIONAHA.116.026886Test
https://www.zora.uzh.ch/id/eprint/144457Test/
https://www.zora.uzh.ch/id/eprint/144457/1/Circulation_2017.pdfTest
https://www.zora.uzh.ch/id/eprint/144457/8/ZORA144457.pdfTest

المؤلفون: Arts, Florence A., Sciot, Raf, Brichard, Bénédicte, Renard, Marleen, de Rocca Serra, Audrey, Dachy, Guillaume, Noël, Laura A., Velghe, Amélie I., Galant, Christine, Debiec-Rychter, Maria, Van Damme, An, Vikkula, Miikka, Helaers, Raphaël, Limaye, Nisha, Poirel, Hélène A., Demoulin, Jean-Baptiste

المساهمون: Fonds National de la Recherche Scientifique, FNRS, FRFS-WELBIO

المصدر: Human Molecular Genetics ; volume 26, issue 10, page 1801-1810 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddx081Test
http://academic.oup.com/hmg/article-pdf/26/10/1801/14088400/ddx081.pdfTest

المؤلفون: Brouillard, Pascal, Dupont, Laura, Helaers, Raphael, Coulie, Richard, Tiller, George E, Peeden, Joseph, Colige, Alain, Vikkula, Miikka

المصدر: Human Molecular Genetics ; volume 26, issue 21, page 4095-4104 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddx297Test
http://academic.oup.com/hmg/article-pdf/26/21/4095/21359630/ddx297.pdfTest

المؤلفون: Soblet, Julie, Kangas, Jaakko, Nätynki, Marjut, Mendola, Antonella, Helaers, Raphaël, Uebelhoer, Melanie, 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., Vikkula, Miikka

المصدر: Journal of Investigative Dermatology ; volume 137, issue 1, page 207-216 ; ISSN 0022-202X

مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jid.2016.07.034Test
https://api.elsevier.com/content/article/PII:S0022202X16322527?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X16322527?httpAccept=text/plainTest

المؤلفون: Evenepoel, Lucie, Helaers, Raphaël, Vroonen, Laurent, Aydin, Selda, Hamoir, Marc, Maiter, Dominique, Vikkula, Miikka, Persu, Alexandre

المصدر: Endocrine-Related Cancer ; volume 24, issue 8, page L57-L61 ; ISSN 1351-0088 1479-6821

الإتاحة: https://doi.org/10.1530/erc-17-0061Test
https://erc.bioscientifica.com/view/journals/erc/24/8/ERC-17-0061.xmlTest

المؤلفون: Fages, Angeline Emmanuelle, Rajput Bhatti, Memoona, Helaers, Raphaël, Loriot, Axelle, Achouri, Younes, Scheers, Isabelle, Jacquemin, P

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1493::e11cef8292dcb799d0ddb3447726c7a4Test
https://hdl.handle.net/2078.1/266159Test

المؤلفون: Rajput Bhatti, Memoona, Helaers, Raphaël, Loriot, Axelle, Achouri, Younes, Scheers, Isabelle, Jacquemin, P

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de gastro-entérologie et hépatologie pédiatrique

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______1493::b3174d4993e13f92bd8a2a7da682ba2dTest
https://hdl.handle.net/2078.1/266158Test

المؤلفون: Depiereux, Sophie, Le Gac, Florence, De Meulder, Bertrand, Pierre, Michael, Helaers, Raphaël, Guiguen, Yann, Kestemont, Patrick, Depiereux, Eric

المساهمون: Unamur - Research Unit in Environmental and Evolutionary Biology (URBENARILIS), Unamur - University of Namur (UNamur), Research Unit in Molecular Biology (URBM-NARILIS)

المصدر: PLoS One, Vol. 10, no.9, p. e0135799 (2015)

العلاقة: boreal:167500; http://hdl.handle.net/2078/167500Test; urn:ISSN:1932-6203; urn:EISSN:1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0135799Test
http://hdl.handle.net/2078/167500Test