Результаты поиска - Ross McLeod

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  1. 1
    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

    High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome по Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, Steffan Loff, Walter Back, Constanze Pagenstecher, D. Ross McLeod, Gail E. Graham, Elisabeth Mangold, René Santer, Peter Propping, Waltraut Friedl

    Опубликовано 2005
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    Artigo
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  2. 2
    Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

    Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification по Kym M. Boycott, Shauna Flavelle, Alexandre Bureau, Hannah C. Glass, Takuya Fujiwara, Elaine Wirrell, Krista Davey, Albert E. Chudley, James N. Scott, D. Ross McLeod, Jillian S. Parboosingh

    Опубликовано 2005
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    Artigo
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  3. 3
    Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

    Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems по Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon C. Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea

    Опубликовано 2010
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    Artigo
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  4. 4
    Intellectual disability associated with a homozygous missense mutation in THOC6

    Intellectual disability associated with a homozygous missense mutation in THOC6 по Chandree L. Beaulieu, Lijia Huang, A. Micheil Innes, Marie‐Andrée Akimenko, Erik G. Puffenberger, Charles E. Schwartz, Jerry Paul, Carole Ober, Robert A. Hegele, D. Ross McLeod, Jeremy Schwartzentruber, Jacek Majewski, Dennis E. Bulman, Jillian S. Parboosingh, Kym M. Boycott

    Опубликовано 2013
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    Artigo
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  5. 5
    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

    Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome по Danielle C. Lynch, Timothée Revil, Jeremy Schwartzentruber, Elizabeth Bhoj, A. Micheil Innes, Ryan E. Lamont, Edmond G. Lemire, Bernard N. Chodirker, Juliet Taylor, Elaine H. Zackai, D. Ross McLeod, Edwin P. Kirk, Julie Hoover‐Fong, Leah R. Fleming, Ravi Savarirayan, Kym M. Boycott, Alex MacKenzie, Michael Brudno, Dennis E. Bulman, David A. Dyment, Jacek Majewski, Loydie A. Jerome‐Majewska, Jillian S. Parboosingh, François Bernier

    Опубликовано 2014
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    Artigo
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  6. 6
    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

    Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 по Kym M. Boycott, Chandree L. Beaulieu, Kristin D. Kernohan, Ola H. Gebril, Aziz Mhanni, Albert E. Chudley, David Redl, Wen Qin, Sarah Hampson, Sébastien Küry, Martine Tétreault, Erik G. Puffenberger, James N. Scott, Stéphane Bézieau, André Reis, Steffen Uebe, Johannes Schumacher, Robert A. Hegele, D. Ross McLeod, Marina Gálvez‐Peralta, Jacek Majewski, V. Ramaekers, Daniel W. Nebert, A. Micheil Innes, Jillian S. Parboosingh, Rami Abou Jamra

    Опубликовано 2015
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    Artigo
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  7. 7
    Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

    Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome по Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel, Jeremy Schwartzentruber, Chandree L. Beaulieu, Małgorzata J.M. Nowaczyk, Judith Allanson, Chong Ae Kim, Dagmar Wieczorek, Jukka S. Moilanen, Didier Lacombe, Gabriele Gillessen‐Kaesbach, Margo L. Whiteford, Caio Robledo D’Angioli Costa Quaio, Israel Gomy, Débora Romeo Bertola, Beate Albrecht, Konrad Platzer, George McGillivray, Ruobing Zou, D. Ross McLeod, Albert E. Chudley, Bernard N. Chodirker, Janet Marcadier, Jacek Majewski, Dennis E. Bulman, Susan M. White, Kym M. Boycott

    Опубликовано 2012
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    Artigo
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  8. 8
    Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

    Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability по Nina Bögershausen, Nassim Shahrzad, Jessica X. Chong, Jürgen‐Christoph von Kleist-Retzow, Daniela Stanga, Yun Li, François Bernier, Catrina M. Loucks, Radu Wirth, Erik G. Puffenberger, Robert A. Hegele, Julia Schreml, Gabriel Lapointe, Katharina Keupp, Christopher L. Brett, Rebecca L. Anderson, Andreas Hahn, A. Micheil Innes, Oksana Suchowersky, Marilyn B. Mets, Gudrun Nürnberg, D. Ross McLeod, Hölger Thiele, Darrel Waggoner, Janine Altmüller, Kym M. Boycott, Benedikt Schoser, Peter Nürnberg, Carole Ober, Raoul Heller, Jillian S. Parboosingh, Bernd Wollnik, Michael Sacher, Ryan E. Lamont

    Опубликовано 2013
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    Artigo
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  9. 9
    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta по Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, Virginie Laugel-Haushalter, Véronique Geoffroy, Jean Muller, François Clauss, Megana Prasad, Frédéric Obry, Jean Louis Raymond, Marzena Switala, Yves Alembik, S. Soskin, Éric Mathieu, Joseph Hemmerlé, Jean‐Luc Weickert, Branka Dabovic, Daniel B. Rifkin, Annelies Dheedene, Eveline Boudin, Oana Caluseriu, Marie‐Claude Cholette, Ross McLeod, Reynaldo Antequera, Marie-Paule Gellé, Jean-Louis Coeuriot, L. F. Jacquelin, Isabelle Bailleul‐Forestier, Marie‐Cécile Manière, Wim Van Hul, Débora Romeo Bertola, Pascal Dollé, Alain Verloès, Geert Mortier, Hélène Dollfus, Agnès Bloch‐Zupan

    Опубликовано 2015
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    Artigo
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  10. 10
    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III

    Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III по H.‐J. Lüdecke, Jörg Schaper, Peter Meinecke, Parastoo Momeni, Simon Groß, D. von Holtum, H. Hirche, Marc Abramowicz, Beate Albrecht, Can Apacik, H.‐J. Christen, U. Claussen, Koenraad Devriendt, Elisabeth Fastnacht, A. Forderer, U Friedrich, Thj Goodship, M. Greiwe, Henning Hamm, Raoul C. M. Hennekam, Georg Klaus Hinkel, Maria Hoeltzenbein, Hülya Kayserili, F. Majewski, M Mathieu, Ross McLeod, Alina T. Midro, Ute Moog, Toshiro Nagai, Norio Niikawa, Karen Helene Ørstavik, E Plöchl, C. S. Seitz, Jörg Schmidtke, Lisbeth Tranebjærg, Masato Tsukahara, B Wittwer, Bernhard Zabel, Gabriele Gillessen‐Kaesbach, Bernhard Horsthemke

    Опубликовано 2001
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    Artigo
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  11. 11
    TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

    TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone по Lijia Huang, Katarzyna Szymańska, Victor L. Jensen, Andreas Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, François Bernier, Albert E. Chudley, Andreas Th. Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott

    Опубликовано 2011
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    Artigo
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  12. 12
    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 по 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

    Опубликовано 2021
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    Artigo
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