Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Frints, Suzanna Gerarda Maria"'
Autor:
Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia
Publikováno v:
In Genetics in Medicine August 2019 21(8):1808-1820
Autor:
Frints, Suzanna Gerarda Maria1,2 suzanne.frints@gen.unimaas.nl, Lenzner, Steffen3, Bauters, Mareike4, Jensen, Lars Riff3, Van Esch, Hilde5, des Portes, Vincent6, Moog, Ute1, Macville, Merryn Victor Erik1, van Roozendaal, Kees1, Schrander-Stumpel, Constance Theresia Rimbertha Maria1,2, Tzschach, Andreas3, Marynen, Peter4, Fryns, Jean-Pierre5, Hamel, Ben7, van Bokhoven, Hans7, Chelly, Jamel8, Beldjord, Chérif8, Turner, Gillian9, Gecz, Jozef10, Moraine, Claude11
Publikováno v:
European Journal of Human Genetics. Sep2008, Vol. 16 Issue 9, p1029-1037. 9p. 3 Black and White Photographs, 2 Diagrams, 1 Chart, 1 Graph.
Autor:
Andrea Gazzin, Diana Carli, Federica Maria Valente, Suzanna G.M. Frints, Marielle Alders, Alessandro Mussa, Flavia Cerrato, Basilia Acurzio, Monica Franzese, Claudia Angelini, Giovanni Battista Ferrero, Laura Pignata, Andrea Freschi, Katherine L. Hill-Harfe, Andrea Riccio, Saskia M. Maas, Charles A. Williams, Fulvio Gabbarini, Jet Bliek, Angela Sparago
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine 21 (2019): 1808–1820. doi:10.1038/s41436-018-0416-7
info:cnr-pdr/source/autori:Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F./titolo:Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus/doi:10.1038%2Fs41436-018-0416-7/rivista:Genetics in medicine/anno:2019/pagina_da:1808/pagina_a:1820/intervallo_pagine:1808–1820/volume:21
Genetics in medicine, 21(8), 1808-1820. Lippincott Williams and Wilkins
Genetics in Medicine, 21(8), 1808-1820. Nature Publishing Group
Genetics in medicine 21 (2019): 1808–1820. doi:10.1038/s41436-018-0416-7
info:cnr-pdr/source/autori:Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F./titolo:Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus/doi:10.1038%2Fs41436-018-0416-7/rivista:Genetics in medicine/anno:2019/pagina_da:1808/pagina_a:1820/intervallo_pagine:1808–1820/volume:21
Genetics in medicine, 21(8), 1808-1820. Lippincott Williams and Wilkins
Genetics in Medicine, 21(8), 1808-1820. Nature Publishing Group
Purpose: Beckwith-Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often associated with loss of methylation (LOM) of the imprinting center 2 (IC2) located in KCNQ1 i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d6eaf76ef136adb78341b8a541fb882
https://doi.org/10.1038/s41436-018-0416-7
https://doi.org/10.1038/s41436-018-0416-7