檢索結果 - Hane Lee

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  1. 1
    Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

    Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation 由 Hane Lee, Meng‐Chin Lin, Harley I. Kornblum, Diane M. Papazian, Stanley F. Nelson

    出版 2014
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  2. 2
    Clinical application of next-generation sequencing to the practice of neurology

    Clinical application of next-generation sequencing to the practice of neurology 由 Jessica E. Rexach, Hane Lee, Julián A. Martínez-Agosto, Andrea H. Németh, Brent L. Fogel

    出版 2019
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  3. 3
    Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

    Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory 由 Samuel P. Strom, Hane Lee, Kingshuk Das, Éric Vilain, Stanley F. Nelson, Wayne W. Grody, Joshua L. Deignan

    出版 2014
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  4. 4
    Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure

    Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure 由 Arnaud Lacombe, Hane Lee, Laïla Zahed, Mahmoud Choucair, Jean-Marc Muller, Stanley F. Nelson, Wael Salameh, Éric Vilain

    出版 2006
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  5. 5
    U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line

    U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line 由 Michael J. Clark, Nils Homer, Brian D. O’Connor, Zugen Chen, Ascia Eskin, Hane Lee, Barry Merriman, Stanley F. Nelson

    出版 2010
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  6. 6
    Accuracy of phenotyping of autistic children based on internet implemented parent report

    Accuracy of phenotyping of autistic children based on internet implemented parent report 由 Hane Lee, Alison R. Marvin, Tamara Watson, Judith Piggot, J. Kiely Law, Paul A. Law, John N. Constantino, Stanley F. Nelson

    出版 2010
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  7. 7
    Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of<i>DICER1</i>cause GLOW syndrome

    Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of<i>DICER1</i>cause GLOW syndrome 由 Steven D. Klein, Hane Lee, Shahnaz Ghahremani, Pamela Kempert, Mariam Ischander, Michael A. Teitell, Stanley F. Nelson, Julián A. Martínez-Agosto

    出版 2014
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  8. 8
    Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

    Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV 由 J. Fah Sathirapongsasuti, Hane Lee, Basil A. Horst, Georg Brunner, Alistair J. Cochran, Scott W. Binder, John Quackenbush, Stanley F. Nelson

    出版 2011
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  9. 9
    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

    Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis 由 Hane Lee, John M. Graham, David L. Rimoin, Ralph S. Lachman, Pavel Krejčı́, Stuart W. Tompson, Stanley F. Nelson, Deborah Krakow, Daniel H. Cohn

    出版 2012
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  10. 10
    SGK196 Is a Glycosylation-Specific <i>O</i> -Mannose Kinase Required for Dystroglycan Function

    SGK196 Is a Glycosylation-Specific <i>O</i> -Mannose Kinase Required for Dystroglycan Function 由 Takako Yoshida‐Moriguchi, Tobias Willer, Mary E. Anderson, David Venzke, Tamieka Whyte, Francesco Muntoni, Hane Lee, Stanley F. Nelson, Liping Yu, Kevin P. Campbell

    出版 2013
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  11. 11
    In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing

    In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing 由 Ju Ang Kim, Bong Jik Kim, Chung Lee, Go Hun Seo, Hane Lee, Jin Hee Han, Ava Niazi, Joosang Park, Byung Yoon Choi, Sungjin Park

    出版 2025
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  12. 12
    Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab

    Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab 由 Monica Tsai, Timothy J. Thauland, Alden Huang, Chantana Bun, Sean Fitzwater, Paul Krogstad, Emilie D. Douine, Stanley F. Nelson, Hane Lee, M. Garcia-Lloret, Manish J. Butte

    出版 2020
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  13. 13
    Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

    Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis 由 Hayk Barseghyan, W.H. Wilson Tang, Richard T. Wang, Miguel Almalvez, Eva Segura, Matthew S. Bramble, Allen Lipson, Emilie D. Douine, Hane Lee, Emmanuèle C. Délot, Stanley F. Nelson, Éric Vilain

    出版 2017
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  14. 14
    The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

    The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling 由 Fabiana Csukasi, Iván Durán, Maya Barad, Tomáš Bárta, Iva Gudernová, Lukáš Trantı́rek, Jorge Martı́n, Caroline Y. Kuo, Jeremy D. Woods, Hane Lee, Daniel H. Cohn, Pavel Krejčı́, Deborah Krakow

    出版 2018
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  15. 15
    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

    De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing 由 Samuel P. Strom, Reymundo Lozano, Hane Lee, Naghmeh Dorrani, John Mann, Patricia O'Lague, Nicole Mans, Joshua L. Deignan, Éric Vilain, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    出版 2014
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  16. 16
    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

    Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia 由 Brent L. Fogel, Hane Lee, Joshua L. Deignan, Samuel P. Strom, Sibel Kantarci, Xizhe Wang, Fabiola Quintero‐Rivera, Éric Vilain, Wayne W. Grody, Susan Perlman, Daniel H. Geschwind, Stanley F. Nelson

    出版 2014
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  17. 17
    Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling

    Loss of CHSY1, a Secreted FRINGE Enzyme, Causes Syndromic Brachydactyly in Humans via Increased NOTCH Signaling 由 Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian D. O’Connor, Barry Merriman, Stanley F. Nelson, Simon M. Cool, Osama H. Ababneh, Azmy M. Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade

    出版 2010
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  18. 18
    Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder

    Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder 由 Anne Sigaard Bie, Paula Fernández‐Guerra, Rune Isak Dupont Birkler, Shahar Nisemblat, Dita Pelnēna, Xinping Lu, Joshua L. Deignan, Hane Lee, Naghmeh Dorrani, Thomas J. Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Peter Bross

    出版 2016
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  19. 19
    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

    Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation 由 Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin, Joanna J. Phillips, Quinten Waisfisz, Marjan M. Weiss, Yvonne Hendriks, Kyra E. Stuurman, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Pui‐Yan Kwok, Joseph T.C. Shieh

    出版 2016
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  20. 20
    Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation

    Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation 由 Ramin Nazarian, Hubing Shi, Qi Wang, Xiangju Kong, Richard C. Koya, Hane Lee, Zugen Chen, Mi‐Kyung Lee, Narsis Attar, Hooman Sazegar, Thinle Chodon, Stanley F. Nelson, Grant A. McArthur, Jeffrey A. Sosman, Antoni Ribas, Roger S. Lo

    出版 2010
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