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Gillian Turner

Showing results (31-40 of 53) with videos related to

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The New England Journal of Medicine|March 29, 2018
Ibrutinib plus Venetoclax for the Treatment of Mantle-Cell LymphomaConstantine S Tam, Mary Ann Anderson, Christiane Pott, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Human Mutation|May 8, 2007
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann, Gillian Turner, Maria Kirchhoff, et al.
Nature Genetics|March 13, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyPetter Strømme, Marie E Mangelsdorf, Marie A Shaw, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Medical Genetics|January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113AMark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.
Pageof 6

Showing results (31-40 of 53) with videos related to

Sort By:
Pageof 6
The New England Journal of Medicine|March 29, 2018
Ibrutinib plus Venetoclax for the Treatment of Mantle-Cell LymphomaConstantine S Tam, Mary Ann Anderson, Christiane Pott, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Human Mutation|May 8, 2007
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann, Gillian Turner, Maria Kirchhoff, et al.
Nature Genetics|March 13, 2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyPetter Strømme, Marie E Mangelsdorf, Marie A Shaw, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Journal of Medical Genetics|January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113AMark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 9, 2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humansYe Wu, Amy C Arai, Gavin Rumbaugh, et al.
European Journal of Human Genetics : EJHG|December 24, 2009
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesAnna Hackett, Patrick S Tarpey, Andrea Licata, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.
Pageof 6