Bilaketaren emaitzak - Andrea L. Rideout

  • Erakusten 1 - 8 emaitzak -- 8
Findu emaitzak
  1. 1
    A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

    A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix nork Stylianos Z. Karoulias, Aude Beyens, Zerina Balic, Sofie Symoens, Anthony Vandersteen, Andrea L. Rideout, John D. Dickinson, Bert Callewaert, Dirk Hubmacher

    Argitaratua 2019
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  2. 2
    Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

    Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2 nork Duane L. Guernsey, Haiyan Jiang, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Mathew Nightingale, Andrea L. Rideout, Sylvie Provost, Karen Bedard, Andrew Orr, Marie‐Pierre Dubé, Mark D. Ludman, Mark E. Samuels

    Argitaratua 2009
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  3. 3
    Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

    Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease nork Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark D. Ludman, David Skidmore, Timothy Benstead, Mark E. Samuels

    Argitaratua 2010
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  4. 4
    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man

    Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man nork Karin Tuschl, Peter T. Clayton, Sídney M. Gospe, Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo Teixeira Ribeiro, Orlando Graziani Póvoas Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea L. Rideout, Kevin Gordon, Ron A. Wevers, W.K. Chong, Philippa B. Mills

    Argitaratua 2012
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  5. 5
    Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

    Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4 nork Duane L. Guernsey, Haiyan Jiang, Julie Hussin, Marc Arnold, Khalil Bouyakdan, Scott Perry, Tina Babineau-Sturk, Jill Beis, Nadine Dumas, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Lysanne Patry, Andrea L. Rideout, Aidan Thomas, Andrew Orr, Ingrid Hoffmann, Jacques L. Michaud, Philip Awadalla, David Meek, Mark D. Ludman, Mark E. Samuels

    Argitaratua 2010
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  6. 6
    Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

    Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer nork Daniel Gaston, Samantha Hansford, Carla Oliveíra, Mathew Nightingale, Hugo Pinheiro, Christine Macgillivray, Pardeep Kaurah, Andrea L. Rideout, Patricia A. Steele, Gabriela Soares, Weei‐Yuarn Huang, Scott Whitehouse, Sarah Blowers, Marissa A. LeBlanc, Haiyan Jiang, Wenda Greer, Mark E. Samuels, Andrew Orr, Conrad V. Fernandez, Jacek Majewski, Mark D. Ludman, Sarah Dyack, Lynette S. Penney, Christopher R. McMaster, David G. Huntsman, Karen Bedard

    Argitaratua 2014
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  7. 7
    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i>

    A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> nork Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark E. Lindsay, David Liang, Sarju Mehta, Jennifer Hague, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Yvonne Detisch, Mieke M. van Haelst, Annette F. Baas, Klaske D. Lichtenbelt, Kees P. J. Braun, Denise van der Linde, Jolien W. Roos‐Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Rode Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst‐Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L. Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  8. 8
    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

    Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia nork Aline Verstraeten, Melanie Perik, Anna Baranowska, Josephina Meester, Lotte Van Den Heuvel, Jarl Bastianen, Marlies Kempers, Ingrid P.C. Krapels, Angela H.E.M. Maas, Andrea L. Rideout, Anthony Vandersteen, Glenda Sobey, Diana Johnson, Erik Fransén, Neeti Ghali, Tom R. Webb, Abtehale Al-Hussaini, Peter de Leeuw, P. Delmotte, Marilucy Lopez‐Sublet, Marco Pappaccogli, Muriel Sprynger, Laurent Toubiana, Lut Van Laer, Fleur S. van Dijk, Miikka Vikkula, Nilesh J. Samani, Alexandre Persu, David Adlam, Bart Loeys, Christophe Beauloye, Patrick Chenu, Frank Hammer, Pierre Goffette, Parla Astarci, André Peeters, Robert Verhelst, Patricia Van der Niepen, Frank Van Tussenbroek, Tine De Backer, Sofie Gevaert, Dimitri Hemelsoet, Luc Defreyne, Hilde Heuten, Laetitia Yperzeele, Thijs van der Zijden, Jean‐Philippe Lengelé, Jean-Marie Krzesinski, Peter Verhamme, Thomas Vanassche, Pasquale Scoppettuolo, Jean-Claude Wautrecht, Bojan Jelaković, Živka Dika, Rosa María Bruno, Stefano Taddei, Caterina Romanini, Ilaria Petrucci, Franco Rabbia, Silvia Di Monaco, Gian Paolo Rossi, Silvia Lerco, Pietro Minuz, Giancarlo Mansueto, Sergio De Marchi, Denise Marcon, Bram Kroon, Wilko Spiering, Bert‐Jan H. van den Born, Esteban Poch, Enrique Montagud‐Marrahí, Alícia Molina‐Andújar, Elena Guillén, Marta Burrel, Gregor Wuerzner, Lucia Mazzolai, Giacomo Buso

    Argitaratua 2020
    Testu osoa Testu osoa
    Carta
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: