학술논문
'학술논문'
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1~10
Academic Journal
Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia MS; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sébastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric
American Journal of Human Genetics. 108(5)
Electronic Resource
Ruijmbeek, Claudine Wb; Housley, Filomena; Idrees, Hafiza; Housley, Michael P; Pestel, Jenny; Keller, Leonie; Lai, Jason Kh; der Linde, Herma C van; Willemsen, Rob; Piesker, Janett; Al-Hassnan, Zuhair N; Almesned, Abdulrahman; Dalinghaus, Michiel; den Bersselaar, Lisa M van; van Slegtenhorst, Marjon A; Tessadori, Federico; Bakkers, Jeroen; van Ham, Tjakko J; Stainier, Didier Yr; Verhagen, Judith Ma; Reischauer, Sven
JCI insight vol.8 (2023) date: 2023-09-08 nr.17 [ISSN 2379-3708]
Electronic Resource
Genetica; Genetica Sectie Genoomdiagnostiek; Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
Academic Journal
van Waning, Jaap I; Caliskan, Kadir; Michels, Michelle; Schinkel, Arend F L; Hirsch, Alexander; Dalinghaus, Michiel; Hoedemaekers, Yvonne M; Wessels, Marja W; IJpma, Arne S; Hofstra, Robert M W; van Slegtenhorst, Marjon A; Majoor-Krakauer, Danielle
Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Electronic Resource
Genetica Sectie Metabole Diagnostiek; Genetica; Child Health; Circulatory Health; Rumping, Lynne; Wessels, Marja W; Postma, Alex V; van Schuppen, Joost; van Slegtenhorst, Marjon A; Saris, Jasper J; van Tintelen, J Peter; Robertson, Stephen P; Alders, Mariëlle; Maas, Saskia M; Deprez, Ronald H Lekanne
Electronic Resource
Almomani, Rowida; Verhagen, Judith M A; Herkert, Johanna C; Brosens, Erwin; van Spaendonck-Zwarts, Karin Y; Asimaki, Angeliki; van der Zwaag, Paul A; Frohn-Mulder, Ingrid M E; Bertoli-Avella, Aida M; Boven, Ludolf G; van Slegtenhorst, Marjon A; van der Smagt, Jasper J; van IJcken, Wilfred F J; Timmer, Bert; van Stuijvenberg, Margriet; Verdijk, Rob M; Saffitz, Jeffrey E; du Plessis, Frederik A; Michels, Michelle; Hofstra, Robert M W; Sinke, Richard J; van Tintelen, J Peter; Wessels, Marja W; Jongbloed, Jan D H; van de Laar, Ingrid M B H
Electronic Resource
Genetica Klinische Genetica; Circulatory Health; Almomani, Rowida; Verhagen, Judith M A; Herkert, Johanna C; Brosens, Erwin; van Spaendonck-Zwarts, Karin Y; Asimaki, Angeliki; van der Zwaag, Paul A; Frohn-Mulder, Ingrid M E; Bertoli-Avella, Aida M; Boven, Ludolf G; van Slegtenhorst, Marjon A; van der Smagt, Jasper J; van IJcken, Wilfred F J; Timmer, Bert; van Stuijvenberg, Margriet; Verdijk, Rob M; Saffitz, Jeffrey E; du Plessis, Frederik A; Michels, Michelle; Hofstra, Robert M W; Sinke, Richard J; van Tintelen, J Peter; Wessels, Marja W; Jongbloed, Jan D H; van de Laar, Ingrid M B H
Academic Journal
Verhagen, Judith M; van den Born, Myrthe; van der Linde, Herma C; Nikkels, Peter G; Verdijk, Rob M; van Unen, Leontine M; Baas, Annette F; ter Heide, Henriette; van Osch-Gevers, Lennie; Hoogeveen-Westerveld, Marianne; Herkert, Johanna C; van Slegtenhorst, Marjon A; Wessels, Marja W; Verheijen, Frans W; Hassel, David M; Hofstra, Robert M; Hegde, Ramanujan S; van Ham, Tjakko J; van Hasselt, Peter M; van de Laar, Ingrid M
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[AR] van Slegtenhorst, Marjon A
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