Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Jean Muller"'
Autor:
Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
Publikováno v:
Molecular Syndromology. 5:I-IV
Autor:
Xiaoshu Bei, V. Bennouna Greene, Hélène Dollfus, Nicholas Katsanis, Jean Muller, M. Kribs, Laurence Perrin, F. Stutzmann, Claire Redin, Annick Toutain, Myriam Durand, M. Fischbach, Vincent Marion, Richard A. Lewis, S. Caillard, D. Christmann, Y. Perdomo-Trujillo, Marion Gérard, C. Mutter, Elise Schaefer, Julia Lauer, Corinne Stoetzel, A. Zaloszyc, J. Letsch
Publikováno v:
Molecular Syndromology. 1:273-281
The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity
Autor:
Mathilde, Huckert, Helen, Mecili, Virginie, Laugel-Haushalter, Corinne, Stoetzel, Jean, Muller, Elisabeth, Flori, Vincent, Laugel, Marie-Cécile, Manière, Hélène, Dollfus, Agnès, Bloch-Zupan
Publikováno v:
Molecular syndromology. 5(6)
Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year