Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Yvonne Hilhorts-Hofstee"'
Autor:
Kristien Hoornaert, Maryse Bonduelle, Frits A. Beemer, Kristi J. Jones, Jenneke van den Ende, Orit Reish, Carlo Marcelis, S. Kjaergaard, Gabrielli Orazio, Kristina Lagerstedt, Bart P. Leroy, Hélène Dollfus, Odile Boute, Anne De Paepe, Yolande H. Kroes, Véronique Paquis, Johanna M. van Hagen, Sarah F. Smithson, Kalle O. J. Simola, Chantal Dewinter, Martine Lemerrer, Raoul C.M. Hennekam, Yolande van Bever, Michèle Mathieu, Erik Björck, Muriel Holder, Laila Bendix, Christine E. M. de Die-Smulders, Leopoldo Zelante, Mariet W. Elting, Carel B. Hoyng, Angela Mendicino, Inge Vereecke, Karen Temple, Cinzia Magnani, Marc De Buyzere, Anne Dieux-Coeslier, Ilkka Kaitila, Elisabeth Van Aken, Riina Zordania, Veronica Ileana Guerci, Loreto Martorell, Thomas Rosenberg, Dragana Josifova, Yvonne Hilhorts-Hofstee, Andrew Green, Meriel McEntagart, Melissa Lees, Jules G. Leroy, Jenny Morton, Paul Coucke, Valérie Cormier-Daire, Geert Mortier
Publikováno v:
Hoornaert, K P, Vereecke, I, Dewinter, C, Rosenberg, T, Beemer, F A, Leroy, J G, Bendix, L, Bjorck, E, Bonduelle, M, Boute, O, Cormier-Daire, V, De Die-Smulders, C, Dollfus, H, Elting, M, Green, A, Guerci, V I, Hennekam, R C M, Hilhorts-Hofstee, Y, Holder, M, Hoyng, C, Jones, K J, Josifova, D, Kaitila, I, Kjaergaard, S, Kroes, Y H, Lagerstedt, K, Lees, M, LeMerrer, M, Magnani, C, Marcelis, C, Martorell, L, Mathieu, M, McEntagart, M, Mendicino, A, Morton, J, Orazio, G, Paquis, V, Reish, O, Simola, K O J, Smithson, S F, Temple, K I, Van Aken, E, van Bever, Y, van der Ende, J, van Hagen, J M, Zelante, L, Zordania, R, De Paepe, A, Leroy, B P, de Buyzere, M, Coucke, P J & Mortier, G R 2010, ' Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients ', European Journal of Human Genetics, vol. 18, no. 8, pp. 872-880 . https://doi.org/10.1038/ejhg.2010.23
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
European Journal of Human Genetics, 18, 8, pp. 872-80
European Journal of Human Genetics, 18(8), 872-880. Nature Publishing Group
European journal of human genetics
Vrije Universiteit Brussel
European Journal of Human Genetics, 18, 872-80
European journal of human genetics, 18(8), 872-880. Nature Publishing Group
Contains fulltext : 89172.pdf (Publisher’s version ) (Closed access) Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::180afca07f39f87670a3a37fd42f83f5
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c
https://research.vumc.nl/en/publications/b8088600-2a96-4ef4-a89a-a0cf75cbb36c
Autor:
Jenneke van den Ende, Ilkka Kaitila, Anne Dieux-Coeslier, Christine E. M. de Die-Smulders, Bart P. Leroy, Orit Reish, Yolande H. Kroes, Jenny Morton, Carlo Marcelis, Gabrielli Orazio, Kristina Lagerstedt, Yolande van Bever, Mariet W. Elting, Carel B. Hoyng, Melissa Lees, Martine Lemerrer, Karen Temple, Veronica Ileana Guerci, Paul Coucke, Thomas Rosenberg, Kristien Hoornaert, Kristi J. Jones, Marc De Buyzere, Valérie Cormier-Daire, Jules G. Leroy, Sarah F. Smithson, Riina Zordania, S. Kjaergaard, Odile Boute, Laila Bendix, Inge Vereecke, Leopoldo Zelante, Chantal Dewinter, Johanna M. van Hagen, Cinzia Magnani, Muriel Holder, Véronique Paquis, Erik Björck, Hélène Dollfus, Kalle O. J. Simola, Angela Mendicino, Yvonne Hilhorts-Hofstee, Michèle Mathieu, Maryse Bonduelle, Frits A. Beemer, Anne De Paepe, Meriel McEntagart, Raoul C.M. Hennekam, Elisabeth Van Aken, Dragana Josifova, Andrew Green, Geert Mortier, Loreto Martorell
Publikováno v:
European Journal of Human Genetics. 18:881-881