About: Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

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About: Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Phenotypic variability among 35delG homozygotes in GJB2 gene can not be explained by influence of only one major modifying gene................................................................................... Phenotypic variability among 35delG homozygotes in GJB2 gene can not be explained by influence of only one major modifying gene................................................................................... (en)
Title	Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene (en)
skos:prefLabel	Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene (en)
skos:notation	RIV/00064203:_____/09:5335!RIV10-MZ0-00064203
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Seeman, Pavel Janoušek, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	333291
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/09:5335
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	hereditary hearing loss; connexin 26; 35delG; association study; modifier gene (en)
http://linked.open.../riv/klicoveSlovo	association study 35delG connexin 26 hereditary hearing loss modifier gene
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[1D5BA0BA6E04]
http://linked.open...i/riv/nazevZdroje	European Journal of Human Genetics
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	58 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	17
http://linked.open...iv/tvurceVysledku	… Seeman, Pavel Janoušek, Petr Janecke, Andreas Roux, Anne-Francoise Todtová, Renata Hilgert, Nele Ambrosetti, Umberto Arnos, Kathleen Blanchet, Catherine Camp, Guy Caria, Helena Castillo, Ignacio Castorina, Pierangela Denoyelle, Francoise Dhooge, Ingeborg Dieltjens, Nele Feldmann, Delphine Fialho, Graca Fransen, Erik Frei, Klemens Goizet, Cyril Govaerts, Paul Gronskov, Karen Heyning, Paul Hostmark, Karianne Huentelman, Matthew J Iliadou, Vasiliki Incesulu, Armagan Kunstmann, Erdmute Laer, Lut Lancelot, Guenaelle Liu, Xue Zhong Marlin, Sandrine Martini, Alessandro Mennucci, Elena Moreno, Felipe Mueller-Malesinska, M. Murgia, Alessandra Nekahm-Heis, Doris Nishimura, Carla Norris, Virginia Orzan, Eva Pandya, Arti Petersen, Michael Ploski, Rafal Pollak, Agnieszka Primignani, Paola Skorka, Agata Smith, Richard Sziklai, Istvan Tekin, Mustafa Thorburn, Ashley Q. Toth, Timea Vlaeminck, Stephen Waligora, Jaroslaw Xiaomei, Ouyang
http://linked.open...ain/vavai/riv/wos	000264354900015
issn	1018-4813
number of pages	8 (xsd:int)

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