Søgeresultater - Sarah E. Noon

  • Showing 1 - 7 results of 7
Refine Results
  1. 1
    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

    Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic af Devanshi Mehta, Sarah E. Noon, E Schwartz, Alisha Wilkens, Emma Bedoukian, Irene Scarano, E. Bryan Crenshaw, Ian D. Krantz

    Udgivet 2016
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  2. 2
    Connexin 47 Mutations Increase Risk for Secondary Lymphedema Following Breast Cancer Treatment

    Connexin 47 Mutations Increase Risk for Secondary Lymphedema Following Breast Cancer Treatment af David N. Finegold, Catherine J. Baty, Kelly Z. Knickelbein, Shelley Perschke, Sarah E. Noon, Diana Campbell, Jenny M. Karlsson, Diana Huang, Mark A. Kimak, Elizabeth Lawrence, Eleanor Feingold, Stephen D. Meriney, Adam Brufsky, Robert E. Ferrell

    Udgivet 2012
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  3. 3
    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder af Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sung‐Hae Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian D. Krantz, Sarah E. Noon, Jean P. Pfotenhauer, Thomas M. Morgan, Rocio Moran, Robert C. Pedersen, Margarita Sáenz, Christian P. Schaaf, Patrick Ryan Potts

    Udgivet 2015
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  4. 4
    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

    Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin af Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang, Andrew C. Edmondson, Sarah E. Noon, Matthew C. Dulik, Ramakrishnan Rajagopalan, Charles P. Venditti, Karen W. Gripp, Joy Samanich, Elaine H. Zackai, Matthew A. Deardorff, Dinah Clark, Julian L. Allen, Dale Dorsett, Ziva Misulovin, Makiko Komata, Masashige Bando, Maninder Kaur, Yuki Katou, Katsuhiko Shirahige, Ian D. Krantz

    Udgivet 2015
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  5. 5
    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

    DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies af Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

    Udgivet 2015
    Få fuldtekst Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  6. 6
    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

    Phenotypes and genotypes in individuals with <i>SMC1A</i> variants af Sylvia Huisman, Paul A. Mulder, E. Redeker, Ingrid Bader, Anne‐Marie Bisgaard, Alice S. Brooks, Anna Cereda, Constanza Cinca, Dinah Clark, Valérie Cormier‐Daire, Matthew A. Deardorff, Karin E. M. Diderich, Mariet Elting, Anthonie van Essen, David Fitzpatrick, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Katta M. Girisha, Yvonne Hilhorst‐Hofstee, Saskia Hopman, Denise Horn, Mala Isrie, Sandra Jansen, Cathrine Jespersgaard, Frank J. Kaiser, Maninder Kaur, Tjitske Kleefstra, Ian D. Krantz, Phillis Lakeman, Annemiek Landlust, Davor Lessel, Caroline Michot, Joanna Moss, Sarah E. Noon, Chris Oliver, Ilaria Parenti, Juan Pié, Feliciano J. Ramos, Claudine Rieubland, Silvia Russo, Angelo Selicorni, Zeynep Tümer, Rieneke Vorstenbosch, Tara Wenger, Ingrid van Balkom, Sigrid Piening, Jolanta Wierzba, Raoul C. M. Hennekam

    Udgivet 2017
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:
  7. 7
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance af Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Udgivet 2014
    Få fuldtekst
    Artigo
    Føj til favoritter
    Saved in:

Søgeredskaber: