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Zeynep Tümer

Showing results (1-10 of 171) with videos related to

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Case Reports in Neurological Medicine|July 3, 2015
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?Zeynep Tümer
Human Mutation|January 3, 2013
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndromeZeynep Tümer
European Journal of Human Genetics : EJHG|April 14, 2011
Clinical utility gene card for: Menkes diseaseZeynep Tümer, Leo Klomp
European Journal of Human Genetics : EJHG|June 11, 2009
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsZeynep Tümer, Daniella Bach-Holm
European Journal of Human Genetics : EJHG|November 6, 2009
Menkes diseaseZeynep Tümer, Lisbeth B Møller
The Journal of Molecular Diagnostics : JMD|July 6, 2011
Three new loci for determining x chromosome inactivation patternsBirgitte Bertelsen, Zeynep Tümer, Kirstine Ravn
Genes|September 28, 2021
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Amanda M Levy, Peristera Paschou, Zeynep Tümer
Human Mutation|November 25, 2003
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AZeynep Tümer, Lisbeth Birk Møller, Nina Horn
American Journal of Medical Genetics. Part A|November 26, 2009
A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequencesLaura Roos, Karen Brøndum Nielsen, Zeynep Tümer
Plos One|April 16, 2011
Splice site mutations in the ATP7A geneTina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller
Pageof 18

Showing results (1-10 of 171) with videos related to

Sort By:
Pageof 18
Case Reports in Neurological Medicine|July 3, 2015
Is It a Pathogenic ATP7A Variation and Is It Menkes Disease?Zeynep Tümer
Human Mutation|January 3, 2013
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndromeZeynep Tümer
European Journal of Human Genetics : EJHG|April 14, 2011
Clinical utility gene card for: Menkes diseaseZeynep Tümer, Leo Klomp
European Journal of Human Genetics : EJHG|June 11, 2009
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsZeynep Tümer, Daniella Bach-Holm
European Journal of Human Genetics : EJHG|November 6, 2009
Menkes diseaseZeynep Tümer, Lisbeth B Møller
The Journal of Molecular Diagnostics : JMD|July 6, 2011
Three new loci for determining x chromosome inactivation patternsBirgitte Bertelsen, Zeynep Tümer, Kirstine Ravn
Genes|September 28, 2021
Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Amanda M Levy, Peristera Paschou, Zeynep Tümer
Human Mutation|November 25, 2003
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7AZeynep Tümer, Lisbeth Birk Møller, Nina Horn
American Journal of Medical Genetics. Part A|November 26, 2009
A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequencesLaura Roos, Karen Brøndum Nielsen, Zeynep Tümer
Plos One|April 16, 2011
Splice site mutations in the ATP7A geneTina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller
Pageof 18