Hasil Pencarian - Stephan Zuchner

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  1. 1
    Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

    Perspectives on the Genomics of HSP Beyond Mendelian Inheritance oleh Dana M. Bis-Brewer, Dana M. Bis-Brewer, Stephan Züchner, Stephan Züchner

    Diterbitkan 2018-11-01
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  2. 2
    No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes

    No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes oleh Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner

    Diterbitkan 2023-04-01
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  3. 3
    Somatic mtDNA mutation spectra in the aging human putamen.

    Somatic mtDNA mutation spectra in the aging human putamen. oleh Siôn L Williams, Deborah C Mash, Stephan Züchner, Carlos T Moraes

    Diterbitkan 2013-01-01
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  4. 4
    Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen.

    Correction: Somatic mtDNA Mutation Spectra in the Aging Human Putamen. oleh Siôn L. Williams, Deborah C. Mash, Stephan Züchner, Carlos T. Moraes

    Diterbitkan 2013-12-01
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  5. 5
    Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

    Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy oleh Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta

    Diterbitkan 2024-08-01
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  6. 6
    Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

    Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation oleh Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik

    Diterbitkan 2015-10-01
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  7. 7
    Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling

    Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling oleh Ana Boulanger, Camille Thinat, Stephan Züchner, Lee G. Fradkin, Hugues Lortat-Jacob, Jean-Maurice Dura

    Diterbitkan 2021-03-01
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  8. 8
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia oleh David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

    Diterbitkan 2024-01-01
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  9. 9
    Restoring Shank3 in the rostral brainstem of shank3ab−/− zebrafish autism models rescues sensory deficits

    Restoring Shank3 in the rostral brainstem of shank3ab−/− zebrafish autism models rescues sensory deficits oleh Robert A. Kozol, David M. James, Ivan Varela, Sureni H. Sumathipala, Stephan Züchner, Julia E. Dallman

    Diterbitkan 2021-12-01
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  10. 10
    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder

    P458: EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder oleh Irman Forghani, Steven Lang, Mustafa Tekin, Guney Bademci, Stephanie Bivona, Stephan Zuchner, Matthew Rodier, Alejo Morales

    Diterbitkan 2024-01-01
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  11. 11
    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN)

    O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) oleh Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin

    Diterbitkan 2024-01-01
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  12. 12
    Deep structured learning for variant prioritization in Mendelian diseases

    Deep structured learning for variant prioritization in Mendelian diseases oleh Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner

    Diterbitkan 2023-07-01
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  13. 13
    Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

    Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1 oleh Aparna Ajjarapu, Shawna ME. Feely, Michael E. Shy, Christina Trout, Stephan Zuchner, Steven A. Moore, Katherine D. Mathews

    Diterbitkan 2023-06-01
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  14. 14
    COPI-regulated mitochondria-ER contact site formation maintains axonal integrity

    COPI-regulated mitochondria-ER contact site formation maintains axonal integrity oleh Daniel C. Maddison, Bilal Malik, Leonardo Amadio, Dana M. Bis-Brewer, Stephan Züchner, Owen M. Peters, Gaynor A. Smith

    Diterbitkan 2023-08-01
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  15. 15
    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease.

    Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease. oleh Elena Buglo, Evan Sarmiento, Nicole Belliard Martuscelli, David W Sant, Matt C Danzi, Alexander J Abrams, Julia E Dallman, Stephan Züchner

    Diterbitkan 2020-01-01
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  16. 16
    Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens

    Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens oleh Jeannette Osterloh, Mary Logan, Marc Freeman, Rafael F. Acosta Lebrigio, Rick H. Ulloa, Derek Van Booven, William Hulme, Michael A. Gonzalez, Stephan Zuchner

    Diterbitkan 2012-12-01
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  17. 17
    Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

    Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology oleh Federica Morani, Federica Morani, Stefano Doccini, Giovanna Chiorino, Fabiana Fattori, Daniele Galatolo, Elisa Sciarrillo, Federica Gemignani, Stephan Züchner, Enrico Silvio Bertini, Filippo Maria Santorelli

    Diterbitkan 2021-01-01
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  18. 18
    Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation

    Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation oleh Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

    Diterbitkan 2015-01-01
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  19. 19
    Correction: Exome Sequencing of a Multigenerational Human Pedigree.

    Correction: Exome Sequencing of a Multigenerational Human Pedigree. oleh Dale J. Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A. Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T. Harkins, Stephan Züchner

    Diterbitkan 2009-01-01
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  20. 20
    Exome sequencing of a multigenerational human pedigree.

    Exome sequencing of a multigenerational human pedigree. oleh Dale J Hedges, Dan Burges, Eric Powell, Cherylyn Almonte, Jia Huang, Stuart Young, Benjamin Boese, Mike Schmidt, Margaret A Pericak-Vance, Eden Martin, Xinmin Zhang, Timothy T Harkins, Stephan Züchner

    Diterbitkan 2009-12-01
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