Výsledky vyhledávání - Elizabeth Wohler

  • Zobrazuji výsledky 1 - 10 z 10
Upřesnit hledání
  1. 1
    Genomic analysis of partial 21q monosomies with variable phenotypes

    Genomic analysis of partial 21q monosomies with variable phenotypes Autor Elisha Roberson, Elizabeth Wohler, Julie Hoover‐Fong, Emily C. Lisi, Eric L. Stevens, George H. Thomas, Jay Leonard, Ada Hamosh, Jonathan Pevsner

    Vydáno 2010
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  2. 2
    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

    A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Autor Michele Patricia Migliavacca, Rodrigo Ambrósio Fock, Nadia Almeida, Thereza Cavalcanti, Darine Villela, Ana B. Alvarez Perez, David Valle, Elizabeth Wohler, Nara Sobreira, Salmo Raskin

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy

    Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy Autor Fabiana Louise Motta, Renan Paulo Martin, Fernanda Belga Ottoni Porto, Elizabeth Wohler, Rosane Guazi Resende, Caio Perez Gomes, João Bosco Pesquero, Juliana Maria Ferraz Sallum

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

    Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene Autor Nara Sobreira, Elizabeth T. Cirulli, Dimitrios Avramopoulos, Elizabeth Wohler, Gretchen Oswald, Eric L. Stevens, Dongliang Ge, Kevin V. Shianna, Jason P. Smith, Jessica M. Maia, Curtis Gumbs, Jonathan Pevsner, George Thomas, David Valle, Julie Hoover‐Fong, David B. Goldstein

    Vydáno 2010
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

    Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome Autor Sarah R. Poll, Renan Paulo Martin, Elizabeth Wohler, Elizabeth Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa E. Kratz, Mirlene Cecília Soares Pinho Cernach, Reynaldo Jesús-García, Chad R. Haldeman‐Englert, Yoon Jae Choi, Carol D. Morris, Bernard A. Cohen, Julie Hoover‐Fong, David Valle, Gregg L. Semenza, Nara L. M. Sobreira

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance

    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance Autor Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael S. Hershfield, Carolyn Applegate, Hans T. Björnsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich

    Vydáno 2020
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

    IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease Autor Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing, Silvia Bresolin, Paola Gaio, Renan Paulo Martin, Claudia Mescoli, Sangeeta Bade, Jennifer E. Posey, Maurizio Dalle Carbonare, Wesley Tung, Shalini N. Jhangiani, Luca Bosa, Yu Zhang, Joselito Sobreira Filho, Maria Gabelli, Richárd Kellermayer, Howard A. Kader, Maria Oliva‐Hemker, Giorgio Perilongo, James R. Lupski, Alessandra Biffi, David Valle, Alberta Leon, Nara Sobreira, Helen C. Su, Anthony L. Guerrerio

    Vydáno 2021
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

    Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations Autor John Devane, Elisabeth Ott, Eric Olinger, Daniel Epting, Eva L. Decker, Anja Friedrich, Nadine Bachmann, Gina Renschler, Tobias Eisenberger, Andrea Briem‐Richter, Enke Grabhorn, Laura Powell, Ian Wilson, Sarah J. Rice, Colin Miles, Katrina Wood, Palak Trivedi, Gideon M. Hirschfield, Andrea Pietrobattista, Elizabeth Wohler, Anya Mezina, Nara Sobreira, Emanuele Agolini, Giuseppe Maggiore, Mareike Dahmer‐Heath, Ali Yılmaz, Melanie Boerries, Patrick Metzger, Christoph Schell, Inga Grünewald, Martin Konrad, Jens König, Bernhard Schlevogt, John A. Sayer, Carsten Bergmann

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

    Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy Autor Devesh C. Pant, Imen Dorboz, Agatha Schlüter, Stéphane Fourcade, Nathalie Launay, Javier Joya, Sergio Aguilera, María Eugenia Yoldi, Carlos Casasnovas, Mary Willis, Montserrat Ruíz, Dorothée Ville, Gaëtan Lesca, Karine Siquier-Pernet, Isabelle Desguerre, Huifang Yan, Jingmin Wang, Margit Burmeister, Lauren Brady, Mark A. Tarnopolsky, Carles Cornet, Davide Rubbini, Javier Terriente, Kiely N. James, Damir Musaev, Maha S. Zaki, Marc C. Patterson, Brendan C. Lanpher, Eric W. Klee, Filippo Pinto e Vairo, Elizabeth Wohler, Nara Sobreira, Julie S. Cohen, Reza Maroofian, Hamid Galehdari, Neda Mazaheri, Gholamreza Shariati, Laurence Colleaux, Diana Rodriguez, Joseph G. Gleeson, Cristina Pujades, Ali Fatemi, Odile Boespflug‐Tanguy, Aurora Pujol

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

    Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Autor Laura Castilla‐Vallmanya, Kaja Kristine Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco‐Sánchez, Sandra Yang, Margot R.F. Reijnders, A.J. van Essen, Myriam Oufadem, Magnus Dehli Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton‐Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria R. Sanders, Joel Charrow, Emily Bryant, J Gordon Millichap, Antonio Vitobello, Christel Thauvin, Frédéric Tran Mau‐Them, Laurence Faivre, Gaëtan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Abdelgaber A. Aly, Anna Lehman, Lorne A. Clarke, Luitgard Graul‐Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozić, Ingvild Aukrust, Ryan Peretz, Robert F. Stratton, Thomas Smol, Anne Dieux‐Coëslier, Joanna Góes Castro Meira, Elizabeth Wohler, Nara Sobreira, Erin Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens‐Frederikse, Dawn Earl, Victoria Mok Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell‐Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Yang Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier‐Daire, Susana Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon

    Vydáno 2020
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: