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There are 15908 results for: content related to: Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: A study of 156 consecutive patients

  1. You have free access to this content
    Analysis of the DYSF mutational spectrum in a large cohort of patients

    Human Mutation

    Volume 30, Issue 2, February 2009, Pages: E345–E375, Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella-Branger, Carla Fernandez, Julien Bouvenot, Isabelle Richard, Elisabeth Ollagnon-Roman, Jorge A. Bevilacqua, Eric Salvo, Shahram Attarian, Françoise Chapon, Jean-François Pellissier, Jean Pouget, El Hadi Hammouda, Pascal Laforêt, Jon Andoni Urtizberea, Bruno Eymard, France Leturcq and Nicolas Lévy

    Version of Record online : 13 OCT 2008, DOI: 10.1002/humu.20910

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    A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice


    Volume 13, Issue 6, June 2012, Pages: 869–879, Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvaël Fraysse, Laura Briñas, Bernard Prudhon, Josiane Castells, Damien Freyssenet, Gisèle Bonne, Pascale Guicheney and Marc Bitoun

    Version of Record online : 3 APR 2012, DOI: 10.1111/j.1600-0854.2012.01348.x

  3. Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 172–177, O. M'hamdi, C. Redin, C. Stoetzel, I. Ouertani, M. Chaabouni, F. Maazoul, R. M'rad, J.L. Mandel, H. Dollfus, J. Muller and H. Chaabouni

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12129

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    Growth phase-dependent expression and degradation of histones in the thermophilic archaeon Thermococcus zilligii

    Molecular Microbiology

    Volume 36, Issue 4, May 2000, Pages: 876–885, Marcel E. Dinger, Gregory J. Baillie and David R. Musgrave

    Version of Record online : 18 JAN 2002, DOI: 10.1046/j.1365-2958.2000.01904.x

  5. Discrete Element Method simulations of the saturation of aeolian sand transport

    Geophysical Research Letters

    Volume 42, Issue 6, 28 March 2015, Pages: 2063–2070, Thomas Pähtz, Amir Omeradžić, Marcus V. Carneiro, Nuno A. M. Araújo and Hans J. Herrmann

    Version of Record online : 31 MAR 2015, DOI: 10.1002/2014GL062945

  6. The UMD-LDLR database: additions to the software and 490 new entries to the database

    Human Mutation

    Volume 20, Issue 2, August 2002, Pages: 81–87, Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Catherine Boileau and Mathilde Varret

    Version of Record online : 16 JUL 2002, DOI: 10.1002/humu.10102

  7. An inherited LMNA gene mutation in atypical Progeria syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2881–2887, Yassamine Doubaj, Annachiara De Sandre-Giovannoli, Esteves-Vieira Vera, Claire Laure Navarro, Siham Chafai Elalaoui, Mariam Tajir, Nicolas Lévy and Abdelaziz Sefiani

    Version of Record online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35557

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    Negative constrained DNA supercoiling in archaeal nucleosomes

    Molecular Microbiology

    Volume 35, Issue 2, January 2000, Pages: 341–349, David Musgrave, Patrick Forterre and Alexei Slesarev

    Version of Record online : 1 MAR 2002, DOI: 10.1046/j.1365-2958.2000.01689.x

  9. Kinetics of removal of impurities from gases by high pressure adsorption

    Chemical Engineering & Technology

    Volume 10, Issue 1, 1987, Pages: 63–72, Dr.-Ing. Günter Groninger, Prof. Dr. Kurt Hedden and Dr.-Ing. B. Ramananda Rao

    Version of Record online : 2 FEB 2004, DOI: 10.1002/ceat.270100109

  10. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

    Human Mutation

    Volume 36, Issue 4, April 2015, Pages: 443–453, Francesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, Pascaline Gaildrat, Christel Castro, Catherine Vovan, Karine Bertaux, Rafaelle Bernard, Shahram Attarian, Kanako Goto, Ichizo Nishino, Yukiko Hayashi, Frédérique Magdinier, Martin Krahn, Françoise Helmbacher, Marc Bartoli and Nicolas Lévy

    Version of Record online : 19 MAR 2015, DOI: 10.1002/humu.22760

  11. Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype


    Volume 21, Issue 5, September 2015, Pages: e375–e383, M. E. R. van Meegeren, T. L. Mancini, S. C. M. Schoormans, B. J. T. van Haren, C. van Duren, A. Diekstra, B. A. P. Laros-van Gorkom, P. P. T. Brons, A. Simons, L. Hoefsloot and W. L. van Heerde

    Version of Record online : 24 JUL 2015, DOI: 10.1111/hae.12733

  12. Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 1, 1 April 2004, Pages: 33–40, Gabriela Coutinho, Midori Mitui, Catarina Campbell, Beatriz T. Costa Carvalho, Shareef Nahas, Xia Sun, Yong Huo, Chih-hung Lai, Yvonne Thorstenson, Robert Tanouye, Salmo Raskin, Chong A. Kim, Juan Llerena Jr and Richard A. Gatti

    Version of Record online : 24 OCT 2003, DOI: 10.1002/ajmg.a.20570

  13. Clinical whole exome sequencing in child neurology practice

    Annals of Neurology

    Volume 76, Issue 4, October 2014, Pages: 473–483, Siddharth Srivastava, Julie S. Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu and Ali Fatemi

    Version of Record online : 30 AUG 2014, DOI: 10.1002/ana.24251

  14. High-resolution one-and two-dimensional 1H MRS of human brain tumor and normal glial cells

    NMR in Biomedicine

    Volume 7, Issue 3, May 1994, Pages: 111–120, Klaus Kotitschke, Hans Jung, Stephan Nekolla, Axel Haase, Albrech Bauer and Ulrich Bogdahn

    Version of Record online : 24 OCT 2005, DOI: 10.1002/nbm.1940070303

  15. Genetic heterogeneity of autosomal dominant hypercholesterolemia

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 1–13, M Varret, M Abifadel, J-P Rabès and C Boileau

    Version of Record online : 19 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00915.x

  16. Converting Enzyme Inhibition in Mild and Moderate Essential Hypertension. II

    Acta Medica Scandinavica

    Volume 219, Issue 1, January/December 1986, Pages: 29–36, STEN RASMUSSEN, ARNE LETH, HANS IBSEN, META DAMKJÆR NIELSEN, FINN NIELSEN and JØRN GIESE

    Version of Record online : 24 APR 2009, DOI: 10.1111/j.0954-6820.1986.tb03272.x

  17. Links between wave forcing, offshore islands and a macro-tidal headland-bound bay beach

    Earth Surface Processes and Landforms

    Volume 39, Issue 2, February 2014, Pages: 143–155, Tony Thomas, Michael R. Phillips, Allan T. Williams and Rhian E. Jenkins

    Version of Record online : 10 JUN 2013, DOI: 10.1002/esp.3433

  18. Innate dysfunction promotes linear growth failure in pediatric Crohn's disease and growth hormone resistance in murine ileitis

    Inflammatory Bowel Diseases

    Volume 18, Issue 2, February 2012, Pages: 236–245, Sharon D'Mello, Anna Trauernicht, Anne Ryan, Erin Bonkowski, Tara Willson, Bruce C. Trapnell, Stuart J. Frank, Subra Kugasathan and Lee A. Denson

    Version of Record online : 18 FEB 2011, DOI: 10.1002/ibd.21689

  19. Comparative localization of serotonin1A, 1C, and 2 receptor subtype mRNAs in rat brain

    Journal of Comparative Neurology

    Volume 351, Issue 3, 16 January 1995, Pages: 357–373, D. E. Wright, K. B. Seroogy, K. H. Lundgren, B. M. Davis and L. Jennes

    Version of Record online : 10 OCT 2004, DOI: 10.1002/cne.903510304

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    Recent advances in understanding the molecular mechanisms regulating C. elegans transcription

    Developmental Dynamics

    Volume 239, Issue 5, May 2010, Pages: 1388–1404, Jeb Gaudet and James D. McGhee

    Version of Record online : 19 FEB 2010, DOI: 10.1002/dvdy.22246