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Publication details

Document type
Journal articles

Document subtype
Full paper

Title
Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene

Participants in the publication
Nele Hilgert (Author)
Matthew J Huentelman (Author)
Ashley Q Thorburn (Author)
Erik Fransen (Author)
Nele Dieltjens (Author)
Malgorzata Mueller-Malesinska (Author)
Agnieszka Pollak (Author)
Agata Skorka (Author)
Jaroslaw Waligora (Author)
Rafal Ploski (Author)
Pierangela Castorina (Author)
Paola Primignani (Author)
Umberto Ambrosetti (Author)
Alessandra Murgia (Author)
Eva Orzan (Author)
Arti Pandya (Author)
Kathleen Arnos (Author)
Virginia Norris (Author)
Pavel Seeman (Author)
Petr Janousek (Author)
Delphine Feldmann (Author)
Sandrine Marlin (Author)
Françoise Denoyelle (Author)
Carla J Nishimura (Author)
Andreas Janecke (Author)
Doris Nekahm-Heis (Author)
Alessandro Martini (Author)
Elena Mennucci (Author)
Timea Tóth (Author)
Istvan Sziklai (Author)
Ignacio del Castillo (Author)
Felipe Moreno (Author)
Michael B Petersen (Author)
Vasiliki Iliadou (Author)
Mustafa Tekin (Author)
Armagan Incesulu (Author)
Ewa Nowakowska (Author)
Jerzy Bal (Author)
Paul Van de Heyning (Author)
Anne-Françoise Roux (Author)
Catherine Blanchet (Author)
Cyril Goizet (Author)
Guenaëlle Lancelot (Author)
Graça Fialho (Author)
BIOFIG
Helena Caria (Author)
Xue Zhong Liu (Author)
Ouyang Xiaomei (Author)
Paul Govaerts (Author)
Karen Grønskov (Author)
Karianne Hostmark (Author)
Klemens Frei (Author)
Ingeborg Dhooge (Author)
Stephen Vlaeminck (Author)
Erdmute Kunstmann (Author)
Lut Van Laer (Author)
Richard JH Smith (Author)
Guy Van Camp (Author)

Date of Publication
2009

Where published
EUROPEAN JOURNAL OF HUMAN GENETICS

Publication Identifiers
ISSN - 1018-4813

Volume
17

Starting page
517
Last page
524

Document Identifiers
DOI - https://doi.org/10.1038/ejhg.2008.201

Rankings
Web Of Science Q2 (2009) - 3.564 - Biochemistry & Molecular Biology
Web Of Science Q2 (2009) - 3.564 - Genetics & Heredity
SCIMAGO Q1 (2009) - 2.001 - Genetics
SCIMAGO Q1 (2009) - 2.001 - Genetics (clinical)


Export

APA
Nele Hilgert , Matthew J Huentelman , Ashley Q Thorburn , Erik Fransen, Nele Dieltjens, Malgorzata Mueller-Malesinska, Agnieszka Pollak, Agata Skorka, Jaroslaw Waligora, Rafal Ploski, Pierangela Castorina, Paola Primignani, Umberto Ambrosetti, Alessandra Murgia, Eva Orzan , Arti Pandya , Kathleen Arnos, Virginia Norris, Pavel Seeman, Petr Janousek, Delphine Feldmann, Sandrine Marlin , Françoise Denoyelle, Carla J Nishimura, Andreas Janecke , Doris Nekahm-Heis, Alessandro Martini , Elena Mennucci , Timea Tóth, Istvan Sziklai, Ignacio del Castillo , Felipe Moreno , Michael B Petersen , Vasiliki Iliadou, Mustafa Tekin, Armagan Incesulu, Ewa Nowakowska , Jerzy Bal, Paul Van de Heyning , Anne-Françoise Roux , Catherine Blanchet , Cyril Goizet , Guenaëlle Lancelot , Graça Fialho, Helena Caria, Xue Zhong Liu , Ouyang Xiaomei, Paul Govaerts, Karen Grønskov, Karianne Hostmark, Klemens Frei , Ingeborg Dhooge, Stephen Vlaeminck , Erdmute Kunstmann , Lut Van Laer , Richard JH Smith , Guy Van Camp, (2009). Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene. EUROPEAN JOURNAL OF HUMAN GENETICS, 17, 517-524. ISSN 1018-4813. eISSN .

IEEE
Nele Hilgert , Matthew J Huentelman , Ashley Q Thorburn , Erik Fransen, Nele Dieltjens, Malgorzata Mueller-Malesinska, Agnieszka Pollak, Agata Skorka, Jaroslaw Waligora, Rafal Ploski, Pierangela Castorina, Paola Primignani, Umberto Ambrosetti, Alessandra Murgia, Eva Orzan , Arti Pandya , Kathleen Arnos, Virginia Norris, Pavel Seeman, Petr Janousek, Delphine Feldmann, Sandrine Marlin , Françoise Denoyelle, Carla J Nishimura, Andreas Janecke , Doris Nekahm-Heis, Alessandro Martini , Elena Mennucci , Timea Tóth, Istvan Sziklai, Ignacio del Castillo , Felipe Moreno , Michael B Petersen , Vasiliki Iliadou, Mustafa Tekin, Armagan Incesulu, Ewa Nowakowska , Jerzy Bal, Paul Van de Heyning , Anne-Françoise Roux , Catherine Blanchet , Cyril Goizet , Guenaëlle Lancelot , Graça Fialho, Helena Caria, Xue Zhong Liu , Ouyang Xiaomei, Paul Govaerts, Karen Grønskov, Karianne Hostmark, Klemens Frei , Ingeborg Dhooge, Stephen Vlaeminck , Erdmute Kunstmann , Lut Van Laer , Richard JH Smith , Guy Van Camp, "Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene" in EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 17, pp. 517-524, 2009. 10.1038/ejhg.2008.201

BIBTEX
@article{2377, author = {Nele Hilgert and Matthew J Huentelman and Ashley Q Thorburn and Erik Fransen and Nele Dieltjens and Malgorzata Mueller-Malesinska and Agnieszka Pollak and Agata Skorka and Jaroslaw Waligora and Rafal Ploski and Pierangela Castorina and Paola Primignani and Umberto Ambrosetti and Alessandra Murgia and Eva Orzan and Arti Pandya and Kathleen Arnos and Virginia Norris and Pavel Seeman and Petr Janousek and Delphine Feldmann and Sandrine Marlin and Françoise Denoyelle and Carla J Nishimura and Andreas Janecke and Doris Nekahm-Heis and Alessandro Martini and Elena Mennucci and Timea Tóth and Istvan Sziklai and Ignacio del Castillo and Felipe Moreno and Michael B Petersen and Vasiliki Iliadou and Mustafa Tekin and Armagan Incesulu and Ewa Nowakowska and Jerzy Bal and Paul Van de Heyning and Anne-Françoise Roux and Catherine Blanchet and Cyril Goizet and Guenaëlle Lancelot and Graça Fialho and Helena Caria and Xue Zhong Liu and Ouyang Xiaomei and Paul Govaerts and Karen Grønskov and Karianne Hostmark and Klemens Frei and Ingeborg Dhooge and Stephen Vlaeminck and Erdmute Kunstmann and Lut Van Laer and Richard JH Smith and Guy Van Camp}, title = {Phenotypic variability of patients homozygous for the GJB2 mutations 35delG cannot be explained by the influence of one major modifier gene}, journal = {EUROPEAN JOURNAL OF HUMAN GENETICS}, year = 2009, pages = {517-524}, volume = 17 }