Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Marlies E. Y. Laurense-Bik"'
Autor:
Mariëtte J.V. Hoffer, Irfanullah, Wasim Ahmad, Claudia A. L. Ruivenkamp, C. Arnoud Meijer, Abdul Nasir, Imran Ullah, Saadullah Khan, Gijs W. E. Santen, Marlies E. Y. Laurense-Bik, Johan T. den Dunnen
Publikováno v:
American Journal of Medical Genetics Part A, 170(12), 3289-3293
Postaxial polydactyly (PAP) is one of the most common congenital malformations observed in the general population. However, it can also occur as part of a syndrome. Unbiased genetic screening techniques such as exome sequencing are highly appropriate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eee51963bd3272a32627e6e392302d2
http://hdl.handle.net/1887/112962
http://hdl.handle.net/1887/112962
Autor:
Rob F. P. van den Akker, Richard J.L.F. Lemmers, Sari Kiuru-Enari, Vered Raz, Patrick J. van der Vliet, Satomi Mitsuhashi, Ichizo Nishino, Kerstin Hansson, Marjolein Kriek, M. Wohlgemuth, Marlinde L. van den Boogaard, Elly van der Kooi, Judit Balog, Stephen J. Tapscott, Marlies E. Y. Laurense-Bik, Rabi Tawil, Silvère M. van der Maarel, Maarten J. D. van Tol, Kirsten R. Straasheijm, Mari Auranen, Bjarne Udd, Monique M. van Ostaijen-ten Dam, Baziel G.M. van Engelen
Publikováno v:
American Journal of Human Genetics, 98, 1020-9
American Journal of Human Genetics, 98(5), 1020-1029
American Journal of Human Genetics, 98, 5, pp. 1020-9
American Journal of Human Genetics, 98(5), 1020-1029
American Journal of Human Genetics, 98, 5, pp. 1020-9
Item does not contain fulltext Facioscapulohumeral dystrophy (FSHD) is associated with somatic chromatin relaxation of the D4Z4 repeat array and derepression of the D4Z4-encoded DUX4 retrogene coding for a germline transcription factor. Somatic DUX4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14f90ffa1cf465556f3d50ef8fef406f
http://hdl.handle.net/2066/167969
http://hdl.handle.net/2066/167969