Showing 1 - 20 results of 30 for search 'Züchner, S', query time: 0.03s
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No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes by Maike F. Dohrn, Christina Dumke, Ingo Kurth, Stephan Züchner
Published 2023-04-01
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Establishment of low-cost laboratory automation processes using AutoIt and 4-axis robots by Nicole Rupp, Katrin Peschke, Michael Köppl, David Drissner, Thole Zuchner
Published 2022-10-01
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O23: Diagnostic success of genomic analyses in adults with undiagnosed diseases: A report from the Undiagnosed Diseases Network (UDN) by Stephanie Bivona, Carson Smith, Guney Bademci, LéShon Peart, Joanna Gonzalez, Nicholas Borja, Stephan Zuchner, Mustafa Tekin
Published 2024-01-01
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Deep structured learning for variant prioritization in Mendelian diseases by Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana P. Rebelo, Vivian Cintra, Stephan Züchner
Published 2023-07-01
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Whole Genome Sequencing and a New Bioinformatics Platform Allow for Rapid Gene Identification in D. melanogaster EMS Screens by Jeannette Osterloh, Mary Logan, Marc Freeman, Rafael F. Acosta Lebrigio, Rick H. Ulloa, Derek Van Booven, William Hulme, Michael A. Gonzalez, Stephan Zuchner
Published 2012-12-01
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
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A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N) by Mclaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2014Journal article -
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A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). by McLaughlin, H, Sakaguchi, R, Giblin, W, Wilson, T, Biesecker, L, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Lee, Y, Kennerson, M, Hou, Y, Nicholson, G, Antonellis, A
Published 2012Journal article -
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A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. by Vester, A, Velez-Ruiz, G, McLaughlin, H, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A
Published 2013Journal article -
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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo by Vester, A, Velez-Ruiz, G, McLaughlin, H, Nisc, C, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A
Published 2013Journal article -
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RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci by Sarah Fazal, Matt C. Danzi, Isaac Xu, Shilpa Nadimpalli Kobren, Shamil Sunyaev, Chloe Reuter, Shruti Marwaha, Matthew Wheeler, Egor Dolzhenko, Francesca Lucas, Stefan Wuchty, Mustafa Tekin, Stephan Züchner, Vanessa Aguiar-Pulido
Published 2024-01-01
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From wires to waves, a novel sensor system for in vivo pressure monitoring by Daniel Nilsen Wright, Mark Züchner, Eis Annavini, Manuel J. Escalona, Lena Hammerlund Teige, Lars Geir Whist Tvedt, Andreas Lervik, Henning A. Haga, Thomas Guiho, Ingelin Clausen, Thomas Glott, Jean-Luc Boulland
Published 2024-03-01
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Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency by Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai
Published 2023-05-01
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P121: Comparison of diagnostic outcome amongst different ethnic backgrounds in UDN participants at the University of Miami clinical site by Stephanie Bivona, Mustafa Tekin, Guney Bademci, Carson Smith, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Stephan Zuchner
Published 2023-01-01
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P642: Diagnostic yield of multi-omics approach in Undiagnosed Diseases Network Miami clinical site by Guney Bademci, Stephanie Bivona, LeShon Peart, Brittney Johnson, Joanna Gonzalez, Nicholas Borja, Paulo Borjas Mendoza, Irman Forghani, Deborah Barbouth, Kumarie Latchman, Willa Thorson, Shengru Guo, Carson Smith, Stephan Zuchner, Mustafa Tekin
Published 2023-01-01
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