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1دورية أكاديمية
المؤلفون: Revencu, Nicole, Fastre, Elodie, Ravoet, Marie, Helaers, Raphaël, Brouillard, Pascal, Bisdorff-Bresson, Annouk, Chung, Clara W T, Gerard, Marion, Dvorakova, Veronika, Irvine, Alan D, Boon, Laurence M, Vikkula, Miikka
المساهمون: UCL - SSS/DDUV/GEHU - Génétique
المصدر: Journal of medical genetics, Vol. 57, no.1, p. 48-52 (2020)
مصطلحات موضوعية: Arteriovenous Malformations, Capillaries, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Humans, Mosaicism, Mutation, Port-Wine Stain, p120 GTPase Activating Protein, RASA1, capillary malformation-arteriovenous malformation, mosaic mutation, second hit
العلاقة: boreal:230276; http://hdl.handle.net/2078.1/230276Test; info:pmid/31300548; urn:EISSN:1468-6244
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2دورية أكاديمية
المؤلفون: Amyere, Mustapha1, Revencu, Nicole2, Helaers, Raphaël1, Pairet, Eleonore3, Baselga, Eulalia4, Cordisco, Maria5,6, Chung, Wendy7, Dubois, Josée8, Lacour, Jean-Philippe9, Martorell, Loreto10, Mazereeuw-Hautier, Juliette11, Pyeritz, Reed E.12, Amor, David J.13, Bisdorff, Annouk7,14, Blei, Francine15,16, Bombei, Hannah17, Dompmartin, Anne18, Brooks, David19, Dupont, Juliette20, González-Enseñat, Maria Antonia21
المصدر: Circulation. 9/12/2017, Vol. 136 Issue 11, p1037-1048. 12p.
مصطلحات موضوعية: *GERM cells, *ARTERIOVENOUS malformation, *HEREDITARY hemorrhagic telangiectasia, *MICROBIAL virulence, *GENOMES, *CAPILLARIES, *CELL receptors, *CELLULAR signal transduction, *DATABASES, *GENEALOGY, *GENETIC techniques, *GENETIC mutation, *PROTEINS, *SEQUENCE analysis, *SKIN abnormalities, *DIAGNOSIS