Search Results

There are 21847 results for: content related to: KMD: A country-specific genetic variation resource for Korea

  1. You have free access to this content
    Actin out with filamin: Two sides of the story

    Human Mutation

    Volume 33, Issue 4, April 2012, Page: v, Jianjun Hu and Volney Sheen

    Article first published online : 12 MAR 2012, DOI: 10.1002/humu.22572

  2. You have free access to this content
    Retinitis pigmentosa: More genes, more variants, more work

    Human Mutation

    Volume 33, Issue 6, June 2012, Page: v, Johan T. den Dunnen

    Article first published online : 8 MAY 2012, DOI: 10.1002/humu.22574

  3. You have free access to this content
    Reading through nonsense as therapy for propionic acidemia?

    Human Mutation

    Volume 33, Issue 6, June 2012, Page: v, Brage Storstein Andresen

    Article first published online : 8 MAY 2012, DOI: 10.1002/humu.22575

  4. You have free access to this content
    Influence of genetic variation on alternate MUTYH transcript isoforms

    Human Mutation

    Volume 33, Issue 7, July 2012, Page: v, Susan M. Farrington

    Article first published online : 5 JUN 2012, DOI: 10.1002/humu.22576

  5. You have free access to this content
    Olfactory cells aid in the understanding of neurodegenerative disorders

    Human Mutation

    Volume 33, Issue 3, March 2012, Page: 5, Noam Shomron

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22571

  6. You have free access to this content
    Tandem repeat polymorphisms as modulators of biological function and dysfunction

    Human Mutation

    Volume 33, Issue 8, August 2012, Page: v, Anthony J. Hannan

    Article first published online : 13 JUL 2012, DOI: 10.1002/humu.22579

  7. You have free access to this content
    Looks normal, but may not function properly: A “new” mouse model for primary ciliary dyskinesia

    Human Mutation

    Volume 33, Issue 3, March 2012, Page: 5, Ming Qi

    Article first published online : 14 FEB 2012, DOI: 10.1002/humu.22570

  8. You have free access to this content
    Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics

    Human Mutation

    Volume 33, Issue 8, August 2012, Page: v, Sean Tavtigian

    Article first published online : 13 JUL 2012, DOI: 10.1002/humu.22578

  9. You have free access to this content
    How real are our data? Copy number variation in lymphoblastoid and other cell lines

    Human Mutation

    Volume 33, Issue 7, July 2012, Page: v, Nancy B. Spinner

    Article first published online : 5 JUN 2012, DOI: 10.1002/humu.22577

  10. You have free access to this content
    Planar cell polarity gene mutations in severe neural tube defects

    Human Mutation

    Volume 33, Issue 2, February 2012, Page: v, Diana Juriloff

    Article first published online : 12 JAN 2012, DOI: 10.1002/humu.22568

  11. You have free access to this content
    The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease

    Human Mutation

    Volume 33, Issue 11, November 2012, Page: v, Jian-Min Chen

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22585

  12. You have free access to this content
    A database of genetic variants in microRNA genes and their putative functional roles in gene regulation

    Human Mutation

    Volume 33, Issue 1, January 2012, Page: vii, Junwen Wang

    Article first published online : 14 DEC 2011, DOI: 10.1002/humu.22567

  13. You have free access to this content
    Classic EDS: Simply a type v collagen deficiency story?

    Human Mutation

    Volume 33, Issue 10, October 2012, Page: v, Richard Wenstrup

    Article first published online : 13 SEP 2012, DOI: 10.1002/humu.22584

  14. You have free access to this content
    Molecular bypass switches for the targeted correction of ATM mutations

    Human Mutation

    Volume 33, Issue 1, January 2012, Page: vii, Thilo Dörk

    Article first published online : 14 DEC 2011, DOI: 10.1002/humu.22566

  15. You have free access to this content
    Database overkill

    Human Mutation

    Volume 31, Issue 1, January 2010, Page: 1, Richard G.H. Cotton

    Article first published online : 18 DEC 2009, DOI: 10.1002/humu.21164

  16. You have free access to this content
    No association between CALHM1 variation and risk of Alzheimer disease

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: E566–E569, Ryan L. Minster, F. Yesim Demirci, Steven T. DeKosky and M. Ilyas Kamboh

    Article first published online : 3 FEB 2009, DOI: 10.1002/humu.20989

  17. You have free access to this content
    Response to: BAK1 gene variation and abdominal aortic aneurysms—Variants are likely due to sequencing of a processed gene on chromosome 20

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: 110–111, Bruce Gottlieb, Lorraine E. Chalifour and Morris Schweitzer

    Article first published online : 21 OCT 2009, DOI: 10.1002/humu.21148

  18. You have free access to this content
    Automated splicing mutation analysis by information theory

    Human Mutation

    Volume 29, Issue 9, September 2008, Page: 1168, Vijay K. Nalla and Peter K. Rogan

    Article first published online : 18 JUL 2008, DOI: 10.1002/humu.20867

  19. You have free access to this content
    Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA

    Human Mutation

    Volume 30, Issue 2, February 2009, Page: 274, Gaby Tanner, Esther Glaus, Daniel Barthelmes, Marius Ader, Johannes Fleischhauer, Franco Pagani, Wolfgang Berger and John Neidhardt

    Article first published online : 28 JAN 2009, DOI: 10.1002/humu.20943

  20. You have free access to this content
    BAK1 gene variation and abdominal aortic aneurysms—Variants are likely due to sequencing of a processed gene on chromosome 20

    Human Mutation

    Volume 31, Issue 1, January 2010, Pages: 108–109, Eli Hatchwell

    Article first published online : 21 OCT 2009, DOI: 10.1002/humu.21147