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Stephan Züchner

Showing results (51-60 of 198) with videos related to

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Journal of the Peripheral Nervous System : JPNS|February 14, 2015
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axonsAndreas Roos, Joachim Weis, Rudolf Korinthenberg, et al.
Neuromuscular Disorders : NMD|March 23, 2024
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literatureLimin Li, Manoj P Menezes, Melanie Smith, et al.
Bioinformatics (Oxford, England)|September 24, 2005
SNPselector: a web tool for selecting SNPs for genetic association studiesHong Xu, Simon G Gregory, Elizabeth R Hauser, et al.
American Journal of Human Genetics|February 7, 2008
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang, Joelle M van der Walt, Gregory Mayhew, et al.
Frontiers in Neurology|February 15, 2021
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic TechnologyFederica Morani, Stefano Doccini, Giovanna Chiorino, et al.
Circulation. Cardiovascular Genetics|February 17, 2012
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome eraNadine Norton, Peggy D Robertson, Mark J Rieder, et al.
Human Mutation|February 24, 2018
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant BrowserCima Saghira, Dana M Bis, David Stanek, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, et al.
Human Mutation|March 7, 2013
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysisMichael A Gonzalez, Rafael F Acosta Lebrigio, Derek Van Booven, et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry|February 12, 2008
The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depressionWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
Pageof 20

Showing results (51-60 of 198) with videos related to

Sort By:
Pageof 20
Journal of the Peripheral Nervous System : JPNS|February 14, 2015
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axonsAndreas Roos, Joachim Weis, Rudolf Korinthenberg, et al.
Neuromuscular Disorders : NMD|March 23, 2024
Rare homozygous disease-associated sequence variants in children with spinal muscular atrophy: a phenotypic description and review of the literatureLimin Li, Manoj P Menezes, Melanie Smith, et al.
Bioinformatics (Oxford, England)|September 24, 2005
SNPselector: a web tool for selecting SNPs for genetic association studiesHong Xu, Simon G Gregory, Elizabeth R Hauser, et al.
American Journal of Human Genetics|February 7, 2008
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synucleinGaofeng Wang, Joelle M van der Walt, Gregory Mayhew, et al.
Frontiers in Neurology|February 15, 2021
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic TechnologyFederica Morani, Stefano Doccini, Giovanna Chiorino, et al.
Circulation. Cardiovascular Genetics|February 17, 2012
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome eraNadine Norton, Peggy D Robertson, Mark J Rieder, et al.
Human Mutation|February 24, 2018
Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant BrowserCima Saghira, Dana M Bis, David Stanek, et al.
European Journal of Human Genetics : EJHG|March 15, 2013
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, et al.
Human Mutation|March 7, 2013
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysisMichael A Gonzalez, Rafael F Acosta Lebrigio, Derek Van Booven, et al.
The American Journal of Geriatric Psychiatry : Official Journal of the American Association for Geriatric Psychiatry|February 12, 2008
The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depressionWarren D Taylor, Stephan Züchner, Douglas R McQuoid, et al.
Pageof 20