検索結果 - Frank J. Probst

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  1. 1
    The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

    The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells 著者: David W. Anderson, Frank J. Probst, Inna A. Belyantseva, Robert A. Fridell, Lisa A. Beyer, Donna M. Martin, Doris K. Wu, Bechara Kachar, Thomas B. Friedman, Yehoash Raphael, Sally A. Camper

    出版事項 2000
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    Artigo
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  2. 2
    Association of Unconventional Myosin <i>MYO15</i> Mutations with Human Nonsyndromic Deafness <i>DFNB3</i>

    Association of Unconventional Myosin <i>MYO15</i> Mutations with Human Nonsyndromic Deafness <i>DFNB3</i> 著者: Aihui Wang, Yong Liang, Robert A. Fridell, Frank J. Probst, Edward R. Wilcox, Jeffrey W. Touchman, Cynthia C. Morton, Robert J. Morell, Konrad Noben‐Trauth, Sally A. Camper, Thomas B. Friedman

    出版事項 1998
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    Artigo
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  3. 3
    Strain Background Influences Neurotoxicity and Behavioral Abnormalities in Mice Expressing the Tetracycline Transactivator

    Strain Background Influences Neurotoxicity and Behavioral Abnormalities in Mice Expressing the Tetracycline Transactivator 著者: Hyo Jin Han, C. C. Allen, Christie M. Buchovecky, Michael J. Yetman, Heather A. Born, Miguel A. Marín, Shaefali P. Rodgers, Byoung‐Joon Song, Huan Lu, Monica J. Justice, Frank J. Probst, Joanna L. Jankowsky

    出版事項 2012
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    Artigo
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  4. 4
    Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2

    Characterization of the Human and Mouse Unconventional Myosin XV Genes Responsible for Hereditary Deafness DFNB3 and Shaker 2 著者: Yong Liang, Aihui Wang, Inna A. Belyantseva, David W. Anderson, Frank J. Probst, Thomas D. Barber, Webb Miller, Jeffrey W. Touchman, Long Jin, Susan L. Sullivan, James R. Sellers, Sally A. Camper, Ricardo V. Lloyd, Bechara Kachar, Thomas B. Friedman, Robert A. Fridell

    出版事項 1999
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    Artigo
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  5. 5
    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

    Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? 著者: Przemysław Szafrański, Christian P. Schaaf, Richard Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, Lorraine Potocki, Sung-Hae L. Kang, Ankita Patel, Sau Wai Cheung, Frank J. Probst, Brett H. Graham, Marwan Shinawi, Arthur L. Beaudet, Paweł Stankiewicz

    出版事項 2010
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    Artigo
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  6. 6
    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

    Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing 著者: Joanna Wiszniewska, Weimin Bi, Chad A. Shaw, Paweł Stankiewicz, Sung‐Hae Kang, Amber N. Pursley, Seema R. Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai, Hans-Georg O. Bock, Maria Descartes, Frank J. Probst, Fernando Scaglia, Arthur L. Beaudet, James R. Lupski, Christine M. Eng, S.W. Cheung, Carlos A. Bacino, Ankita Patel

    出版事項 2013
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    Artigo
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  7. 7
    Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

    Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 著者: Michael F. Wangler, Claudia Gonzaga‐Jauregui, Tomasz Gambin, Samantha Penney, Timothy J. M. Moss, Atul R. Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven L. Werlin, Ieva Eglite, Liene Korņejeva, Carlos A. Bacino, Dustin Baldridge, Jeffrey L. Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski, Arthur L. Beaudet

    出版事項 2014
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    Artigo
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  8. 8
    Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

    Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size 著者: Marwan Shinawi, P. Liu, Sung Hae L. Kang, Joseph Shen, John W. Belmont, Daryl A. Scott, Frank J. Probst, W. J. Craigen, Brett H. Graham, Amber N. Pursley, G Clark, Jinyoung Lee, Monica B. Proud, A. Stocco, Diana L. Rodríguez, Beth A. Kozel, Steven Sparagana, Elizabeth Roeder, Susan G. McGrew, Thaddeus W. Kurczynski, Lesley Allison, Stephen Amato, Sarah Savage, Ankita Patel, Paweł Stankiewicz, Arthur L. Beaudet, S.W. Cheung, James R. Lupski

    出版事項 2009
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    Artigo
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  9. 9
    Detection of clinically relevant exonic copy-number changes by array CGH

    Detection of clinically relevant exonic copy-number changes by array CGH 著者: Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna Immken, James B. Gibson, Anne Tsai, Jennifer A. Bowers, Tyler Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    出版事項 2010
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    Artigo
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  10. 10
    Mutation discovery in mice by whole exome sequencing

    Mutation discovery in mice by whole exome sequencing 著者: Heather Fairfield, Griffith J Gilbert, Mary Barter, Rebecca R. Corrigan, Michelle Curtain, Yueming Ding, Mark D’Ascenzo, Daniel J. Gerhardt, Chao He, Wenhui Huang, Todd Richmond, Lucy B. Rowe, Frank J. Probst, David E. Bergstrom, Stephen A. Murray, Carol J. Bult, Joel E. Richardson, Benjamin T. Kile, Marta Gut, Jörg Hager, Snævar Sigurðsson, Evan Mauceli, Federica Di Palma, Kerstin Lindblad‐Toh, Michael L. Cunningham, Timothy C. Cox, Monica J. Justice, Mona S. Spector, Scott W. Lowe, Thomas Albert, Leah Rae Donahue, Jeffrey A. Jeddeloh, Jay Shendure, Laura G. Reinholdt

    出版事項 2011
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    Artigo
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  11. 11
    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

    De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations 著者: Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan A. Jolly, Grazia M.S. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij‐Arts, Hermine E. Veenstra‐Knol, Britt‐Marie Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank J. Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila‐Saari, Carlo Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Lai, Deepti Domingo, Bruno Reversade, Jozef Gécz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra

    出版事項 2016
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    Artigo
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  12. 12
    Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies

    Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies 著者: M. Marttila, Vilma‐Lotta Lehtokari, Steven B. Marston, Tuula A. Nyman, Christine Barnérias, Alan H. Beggs, Enrico Bertini, Ozge Ceyhan‐Birsoy, Pascal Cintas, Marion Gérard, Brigitte Gilbert‐Dussardier, Jacob S. Hogue, Cheryl Longman, B. Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hanns Lochmüller, Laurent Magy, Véronique Manel, M. Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, William Stewart, Ana Lía Taratuto, Marjolein Visser, Ekkehard Wilichowski, J. Winer, Kristen L. Nowak, Nigel G. Laing, Tom Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm, Carina Wallgren‐Pettersson

    出版事項 2014
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    Artigo
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  13. 13
    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants 著者: Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloès, Amelle Shillington, Kosuke Izumi, Alyssa Ritter, Beth Keena, Elaine H. Zackai, Dong Li, Elizabeth Bhoj, Jennifer Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata‐Scalisi, Alper Gezdirici, Alberto Fernández‐Jaén, Natalie Hauser, Yuri A. Zárate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau

    出版事項 2020
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    Revisão
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