Výsledky vyhledávání - Alanna E. Koehler

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  1. 1
    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i>

    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> Autor Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vézina, Harper B Fauni, Stephen R. Braddock, Erin Torti, James Holt, Prashant Sharma, May Christine V. Malicdan, Cynthia J. Tifft

    Vydáno 2019
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  2. 2
    CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

    CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease Autor Kevin A. Strauss, Robert N. Jinks, Erik G. Puffenberger, Sundararajan Venkatesh, Kamalendra Singh, Iteen Cheng, Natalie Mikita, Jayapalraja Thilagavathi, Jae Lee, Stefan G. Sarafianos, Abigail R. Benkert, Alanna E. Koehler, Anni Zhu, Victoria Trovillion, Madeleine McGlincy, Thierry Morlet, Matthew A. Deardorff, A. Micheil Innes, Chitra Prasad, Albert E. Chudley, Irene Lee, Carolyn K. Suzuki

    Vydáno 2015
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  3. 3
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy Autor Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    Vydáno 2019
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  4. 4
    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>

    Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i> Autor Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple, Brian Harding, Peter B. Crino, Agnes B. Fogo, Olivia Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine McGlincy, Margaret M. Provencher, Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold E. Cross, Gaurav V. Harlalka, Matthew E. Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa M. Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua J. Zaritsky, Kenneth G. Campellone, D. Holmes Morton, Heng Wang, Andrew H. Crosby, Kevin A. Strauss

    Vydáno 2015
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  5. 5
    MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

    MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome Autor Julia Wang, Rami Al‐Ouran, Yanhui Hu, Seon‐Young Kim, Ying‐Wooi Wan, Michael F. Wangler, Shinya Yamamoto, Hsiao‐Tuan Chao, Aram Comjean, Stephanie E. Mohr, Norbert Perrimon, Zhandong Liu, Hugo J. Bellen, David R. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Anna Bican, David Bick, Camille L. Birch, Braden Boone, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen Golas, David Goldstein, Mary “Gracie” G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar, Brendan Lee, Hane Lee, Paul R. Lee, Shawn Levy

    Vydáno 2017
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  6. 6
    A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

    A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 Autor Hsiao‐Tuan Chao, Mariska Davids, Elizabeth A. Burke, John Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne A. Wolfe, Camilo Toro, Cynthia J. Tifft, Fan Xia, Nicholas Stong, Travis K. Johnson, Coral G. Warr, Shinya Yamamoto, David R. Adams, Thomas C. Markello, William A. Gahl, Hugo J. Bellen, Michael F. Wangler, May Christine V. Malicdan, David R. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, David Bick, Camille L. Birch, Braden Boone, Lauren C. Briere, Donna M. Brown, Matthew Brush, Lindsay C. Burrage, Katherine R. Chao, Gary Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Dan C. Dorset, David D. Draper, Annika M. Dries, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen Golas, David B. Goldstein, Mary “Gracie” G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew Herzog, Ingrid A. Holm, Ellen M. Howerton, Howard J. Jacob, Mahim Jain, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau

    Vydáno 2016
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  7. 7
    The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

    The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease Autor Rachel Ramoni, John J. Mulvihill, David R. Adams, Patrick Allard, Euan A. Ashley, Jonathan A. Bernstein, William A. Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T. McCray, Vandana Shashi, Cynthia J. Tifft, Anastasia L. Wise, David R. Adams, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Alan H. Beggs, Hugo J. Bellen, David L. Bernick, Jonathan A. Bernstein, Anna Bican, David Bick, Camille L. Birch, Braden Boone, Lauren C. Briere, Donna M. Brown, Catherine A. Brownstein, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Katherine R. Chao, Gary Clark, Joy D. Cogan, Cynthia M. Cooper, William J. Craigen, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Laurel A. Donnell‐Fink, Naghmeh Dorrani, Daniel C. Dorset, David D. Draper, Annika M. Dries, Rachel L. Eastwood, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Paul G. Fisher, Trevor S. Frisby, Kate Frost, William A. Gahl, Valerie Gartner, Rena A. Godfrey, Mitchell Goheen, Gretchen Golas, David B. Goldstein, Mary “Gracie” G. Gordon, Sarah E. Gould, Jean-Philippe F. Gourdine, Brett H. Graham, Catherine Groden, Andrea Gropman, Mary E. Hackbarth, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Isabel Hardee, Matthew Herzog, Ingrid A. Holm, Ellen M. Howerton, Brenda Iglesias, Howard J. Jacob, Mahim Jain, Yong‐hui Jiang, Jean M. Johnston, Angela Jones, Alanna E. Koehler, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Jennifer Kyle, Seema R. Lalani, Lea Latham, Yvonne L. Latour, C. Christopher Lau, Jozef Lazar

    Vydáno 2017
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