Torthaí cuardaigh - Sarah Dugan

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  1. 1
    Diagnostic Exome Sequencing Identifies Two Novel <i>IQSEC2</i> Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

    Diagnostic Exome Sequencing Identifies Two Novel <i>IQSEC2</i> Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Cli... de réir Stephanie Gandomi, Kelly Gonzalez, M. Parra, Layla Shahmirzadi, James J. Mancuso, Pavel N. Pichurin, Renee Temme, Sarah Dugan, Wenqi Zeng, Sha Tang

    Foilsithe / Cruthaithe 2013
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  2. 2
    <i>FAM20A</i> Mutations Associated with Enamel Renal Syndrome

    <i>FAM20A</i> Mutations Associated with Enamel Renal Syndrome de réir Shih‐Kai Wang, Bryan M. Reid, Sarah Dugan, J.A. Roggenbuck, Lisa Read, Parissa Aref, Amir Pejman Hashemi Taheri, M Zarif Yeganeh, James P. Simmer, Jan C.‐C. Hu

    Foilsithe / Cruthaithe 2013
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  3. 3
    7q11.23 Duplication syndrome: Physical characteristics and natural history

    7q11.23 Duplication syndrome: Physical characteristics and natural history de réir Colleen A. Morris, Carolyn Β. Mervis, Alex P. Paciorkowski, Omar Abdul‐Rahman, Sarah Dugan, Alan F. Rope, Patricia I. Bader, Laura G. Hendon, Shelley L. Velleman, Bonnie Klein-Tasman, Lucy R. Osborne

    Foilsithe / Cruthaithe 2015
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  4. 4
    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia

    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia de réir Katherine L. Helbig, Ulrike B. S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Lüdger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

    Foilsithe / Cruthaithe 2016
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  5. 5
    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

    The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy de réir Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev, Lubov Blumkin, Sara Kivity, Ilan Linder, Cheryl Shoubridge, Elizabeth E. Palmer, Michael Field, Jackie Boyle, David Chitayat, William D. Gaillard, Eric H. Kossoff, Marjolaine Willems, David Geneviève, Frédéric Tran Mau‐Them, Orna Epstein, Eli Heyman, Sarah Dugan, Alice Masurel‐Paulet, Amélie Piton, Tjitske Kleefstra, Rolph Pfundt, Ryo Sato, Andreas Tzschach, Naomichi Matsumoto, Hirotomo Saitsu, Esther Leshinsky‐Silver, Tally Lerman‐Sagie

    Foilsithe / Cruthaithe 2016
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  6. 6
    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

    The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant de réir David A. Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E. Veenstra‐Knol, Jessie H. Conta, Ana María Fortuna, Gabriele Gillessen‐Kaesbach, Sarah Dugan, Sara Halbach, Omar Abdul‐Rahman, Heather M Winesett, Wendy K. Chung, Marguerite B. Dalton, Petia Dimova, Teresa Mattina, Katrina Prescott, Hui Z. Zhang, Howard M. Saal, Jayne Y. Hehir‐Kwa, Marjolein H. Willemsen, Charlotte W. Ockeloen, Marjolijn C.J. Jongmans, Nathalie Van der Aa, Pinella Failla, Concetta Barone, Emanuela Avola, Alice S. Brooks, Sarina G. Kant, Erica H. Gerkes, Helen V. Firth, Katrin Õunap, Lynne M. Bird, Diane Masser‐Frye, Jennifer Friedman, Modupe A Sokunbi, Abhijit Dixit, Miranda Splitt, Mary K. Kukolich, Julie McGaughran, Bradley P. Coe, Jesús Flórez, Nael Nadif Kasri, Han G. Brunner, Elizabeth M. Thompson, Jozef Gécz, Corrado Romano, Evan E. Eichler, Bert BA de Vries

    Foilsithe / Cruthaithe 2015
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  7. 7
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder de réir Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Foilsithe / Cruthaithe 2019
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  8. 8
    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

    Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome de réir Sarah E. Sheppard, Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson, Julie S. Cohen, Jill A. Fahrner, Ali Fatemi, Jacqueline Harris, C. Nowak, Cathy A. Stevens, Katheryn Grand, Margaret Au, John M. Graham, Pedro A. Sanchez‐Lara, Miguel Del Campo, Marilyn C. Jones, Omar Abdul‐Rahman, Fowzan S. Alkuraya, Jennifer A. Bassetti, Katherine Bergstrom, Elizabeth Bhoj, Sarah Dugan, Julie Kaplan, Nada Derar, Karen W. Gripp, Natalie Hauser, A. Micheil Innes, Beth Keena, Neslida Kodra, Rebecca L. Miller, Beverly Nelson, Małgorzata J.M. Nowaczyk, Zuhair Rahbeeni, Shay Ben‐Shachar, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Mary‐Alice Abbott, Dawn C. Allain, Louise Amlie‐Wolf, Ping Yee Billie Au, Emma Bedoukian, Geoffrey Beek, James S. Barry, Janet Berg, Jonathan A. Bernstein, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Sarah Donoghue, Naghmeh Dorrani, Alison Eaton, Josue A. Flores‐Daboub, Holly Dubbs, Carolyn A. Felix, Chin‐To Fong, Jasmine Lee Fong Fung, Balram Gangaram, Amy Goldstein, Rotem Greenberg, Thoa K. Ha, Joseph H. Hersh, Kosuke Izumi, Staci Kallish, Elijah Kravets, Pui‐Yan Kwok, Rebekah Jobling, Amy E. Knight Johnson, Jessica D. Kushner, Bo Hoon Lee, Brooke Levin, Kristin Lindstrom, Kandamurugu Manickam, Rebecca Mardach, Elizabeth M. McCormick, D. Ross McLeod, Frank Mentch, Kelly Q. Minks, Colleen Muraresku, Stanley F. Nelson, Patrizia Porazzi, Pavel N. Pichurin, Nina Powell‐Hamilton, Zöe Powis, Alyssa Ritter, Caleb Rogers, Luis Rohena, Carey Ronspies, Audrey Schroeder, Zornitza Stark, Lois J. Starr, Joan M. Stoler, Pim Suwannarat, Milen Velinov, Rosanna Weksberg, Yael Wilnai, Neda Zadeh, Dina J. Zand, Marni J. Falk

    Foilsithe / Cruthaithe 2021
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