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There are 21231 results for: content related to: Reading through nonsense as therapy for propionic acidemia?

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    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

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    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

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    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

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    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

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    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

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    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

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    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

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    KMD: A country-specific genetic variation resource for Korea

    Human Mutation

    Volume 33, Issue 4, April 2012, Page: v, Timothy David Smith,

    Article first published online : 12 MAR 2012, DOI: 10.1002/humu.22573

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    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

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    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

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    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

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    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

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    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

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    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

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    The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

    Human Mutation

    Volume 30, Issue 7, July 2009, Pages: E682–E691, Marianne Abifadel, Jean-Pierre Rabès, Sélim Jambart, Georges Halaby, Marie-Hélène Gannagé-Yared, Antoine Sarkis, Ghada Beaino, Mathilde Varret, Nabiha Salem, Sandra Corbani, Hermine Aydénian, Claudine Junien, Arnold Munnich and Catherine Boileau

    Article first published online : 24 MAR 2009, DOI: 10.1002/humu.21002

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    Data Sharing: Standards for Bioinformatic Cross-Talk

    Human Mutation

    Volume 30, Issue 4, April 2009, Page: vii, James Ostell

    Article first published online : 20 MAR 2009, DOI: 10.1002/humu.21013

  17. Novel cardiac β-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy

    Human Mutation

    Volume 15, Issue 6, June 2000, Page: 584, Ryuichiro Anan, Hirohisa Shono and Chuwa Tei

    Article first published online : 31 MAY 2000, DOI: 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R

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    Mosaic mutation detection: finding the rare ones

    Human Mutation

    Volume 30, Issue 6, June 2009, Page: v, Mats Nilsson

    Article first published online : 28 MAY 2009, DOI: 10.1002/humu.21053

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    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

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    Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153–171.

    Human Mutation

    Volume 13, Issue 1, 1999, Page: 82, Peter K. Rogan, Brian M. Faux and Thomas D. Schneider

    Article first published online : 6 APR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:1<82::AID-HUMU10>3.0.CO;2-E