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van den Bersselaar, Lisa M., Verhagen, Judith M.A., Bekkers, Jos A., Kempers, Marlies, Houweling, Arjan C., Baars, Marieke, Overwater, Eline, Hilhorst-Hofstee, Yvonne, Barge-Schaapveld, Daniela Q.C.M., Rompen, Eline, Krapels, Ingrid P.C., Dulfer, Eelco, Wessels, Marja W., Loeys, Bart L., Verhagen, Hence J.M., Maugeri, Alessandra, Roos-Hesselink, Jolien W., Brüggenwirth, Hennie T., van de Laar, Ingrid M.B.H.
Veröffentlicht in: van den Bersselaar , L M , Verhagen , J M A , Bekkers , J A , Kempers , M , Houweling , A C , Baars , M , Overwater , E , Hilhorst-Hofstee , Y , Barge-Schaapveld , D Q C M , Rompen , E , Krapels , I P C , Dulfer , E , Wessels , M W , Loeys , B L , Verhagen , H J M , Maugeri , A , Roos-Hesselink , J W , Brüggenwirth , H T & van de Laar , I M B H 2022 , ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ' , Genetics in Medicine , vol. 24 , no. 10 , pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009;
2022
Veröffentlicht in: van den Bersselaar , L M , Verhagen , J M A , Bekkers , J A , Kempers , M , Houweling , A C , Baars , M , Overwater , E , Hilhorst-Hofstee , Y , Barge-Schaapveld , D Q C M , Rompen , E , Krapels , I P C , Dulfer , E , Wessels , M W , Loeys , B L , Verhagen , H J M , Maugeri , A , Roos-Hesselink , J W , Brüggenwirth , H T & van de Laar , I M B H 2022 , ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ' , Genetics in Medicine , vol. 24 , no. 10 , pp. 2112-2122 . https://doi.org/10.1016/j.gim.2022.07.009;
2022
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Marsili, Luisa, Overwater, Eline, Hanna, Nadine, Baujat, Genevieve, Baars, Marieke J. H., Boileau, Catherine, Bonneau, Dominique, Brehin, Anne Claire, Capri, Yline, Cheung, Ho Y., Dulfer, Eelco, Gerard, Marion, Gouya, Laurent, Hilhorst-Hofstee, Yvonne, Houweling, Arjan C., Isidor, Bertrand, Le Gloan, Lauriane, Menke, Leonie A., Odent, Sylvie, Morice-Picard, Fanny, Vanlerberghe, Clemence, Voorhoeve, Els, van Tintelen, J. Peter, Maugeri, Alessandra, Arnaud, Pauline
Veröffentlicht in: Marsili , L , Overwater , E , Hanna , N , Baujat , G , Baars , M J H , Boileau , C , Bonneau , D , Brehin , A C , Capri , Y , Cheung , H Y , Dulfer , E , Gerard , M , Gouya , L , Hilhorst-Hofstee , Y , Houweling , A C , Isidor , B , Le Gloan , L , Menke , L A , Odent , S , Morice-Picard , F , Vanlerberghe , C , Voorhoeve , E , van Tintelen , J P , Maugeri , A & Arnaud , P 2020 , ' Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient ' , Clinical Genetics , vol. 97 , no. 5 , pp. 723-730 . https://doi.org/10.1111/cge.13700;
2020
Veröffentlicht in: Marsili , L , Overwater , E , Hanna , N , Baujat , G , Baars , M J H , Boileau , C , Bonneau , D , Brehin , A C , Capri , Y , Cheung , H Y , Dulfer , E , Gerard , M , Gouya , L , Hilhorst-Hofstee , Y , Houweling , A C , Isidor , B , Le Gloan , L , Menke , L A , Odent , S , Morice-Picard , F , Vanlerberghe , C , Voorhoeve , E , van Tintelen , J P , Maugeri , A & Arnaud , P 2020 , ' Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient ' , Clinical Genetics , vol. 97 , no. 5 , pp. 723-730 . https://doi.org/10.1111/cge.13700;
2020
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