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There are 8282379 results for: content related to: Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

  1. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3186–3194, Sérgio B. Sousa, Isabelle Russell-Eggitt, Christine Hall, Bryan D. Hall and Raoul C.M. Hennekam

    Version of Record online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32576

  2. You have free access to this content
    Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark

    Acta Ophthalmologica

    Volume 93, Issue 2, March 2015, Pages: 134–140, Mette Bertelsen, Allan Linneberg and Thomas Rosenberg

    Version of Record online : 22 JUN 2014, DOI: 10.1111/aos.12467

  3. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype

    Clinical Genetics

    A.O. Khan, B.S. Budde, P. Nürnberg, A. Kawalia, S. Lenzner and H.J. Bolz

    Version of Record online : 9 MAY 2017, DOI: 10.1111/cge.13022

  4. The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations

    Clinical Genetics

    Volume 51, Issue 5, May 1997, Pages: 314–321, Thomas Rosenberg, Marianne Haim, Anne-Marie Hauch and Agnete Parving

    Version of Record online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.1997.tb02480.x

  5. Joubert syndrome: A review

    American Journal of Medical Genetics

    Volume 43, Issue 4, 1 July 1992, Pages: 726–731, Jorge M. Saraiva and Dr. Michael Baraitser

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430415


    Acta Ophthalmologica

    Volume 53, Issue 5, November 1975, Pages: 781–789, AKE BJÖRK and PEDER JAHNBERG

    Version of Record online : 27 MAY 2009, DOI: 10.1111/j.1755-3768.1975.tb01194.x

  7. Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1342–1347, Mary Ella Pierpont, Mary Richards, W. Keith Engel, Nancy J. Mendelsohn and C. Gail Summers

    Version of Record online : 23 MAR 2017, DOI: 10.1002/ajmg.a.38110

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    Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients

    Clinical & Experimental Ophthalmology

    Volume 43, Issue 2, March 2015, Pages: 132–138, Ivan Prokudin, Dong Li, Sijie He, Yiran Guo, Linda Goodwin, Meredith Wilson, Loreto Rose, Lifeng Tian, Yulan Chen, Jinlong Liang, Brendan Keating, Xun Xu, Robyn V Jamieson and Hakon Hakonarson

    Version of Record online : 2 OCT 2014, DOI: 10.1111/ceo.12391

  9. OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

    Clinical Genetics

    Volume 79, Issue 2, February 2011, Pages: 158–168, KF Schilter, A Schneider, T Bardakjian, J-F Soucy, RC Tyler, LM Reis and EV Semina

    Version of Record online : 14 APR 2010, DOI: 10.1111/j.1399-0004.2010.01450.x

  10. You have full text access to this OnlineOpen article
    A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 289–293, Arundhati Dev Borman, Laura R. Pearce, Donna S. Mackay, Kerstin Nagel-Wolfrum, Alice E. Davidson, Robert Henderson, Sumedha Garg, Naushin H. Waseem, Andrew R. Webster, Vincent Plagnol, Uwe Wolfrum, I. Sadaf Farooqi and Anthony T. Moore

    Version of Record online : 20 DEC 2013, DOI: 10.1002/humu.22482

  11. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 2902–2912, Nuria Garcia Segarra, Diana Ballhausen, Heather Crawford, Matthieu Perreau, Belinda Campos-Xavier, Karin van Spaendonck-Zwarts, Cees Vermeer, Michel Russo, Pierre-Yves Zambelli, Brian Stevenson, Beryl Royer-Bertrand, Carlo Rivolta, Fabio Candotti, Sheila Unger, Francis L. Munier, Andrea Superti-Furga and Luisa Bonafé

    Version of Record online : 19 AUG 2015, DOI: 10.1002/ajmg.a.37338

  12. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1537–1546, Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, [LCA5 Study Group (see Acknowledgments for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramesar, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger], Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore and Robert K. Koenekoop

    Version of Record online : 17 SEP 2013, DOI: 10.1002/humu.22398

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    Advances in the molecular understanding of canine retinal diseases

    Journal of Small Animal Practice

    Volume 46, Issue 8, August 2005, Pages: 371–380, S. Petersen-Jones

    Version of Record online : 10 FEB 2006, DOI: 10.1111/j.1748-5827.2005.tb00333.x

  14. You have full text access to this OnlineOpen article
    Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 1, January 2015, Pages: 14–29, Galuh D. N. Astuti, Vincent Sun, Miriam Bauwens, Ditta Zobor, Bart P. Leroy, Amer Omar, Bernhard Jurklies, Irma Lopez, Huanan Ren, Volkan Yazar, Christian Hamel, Ulrich Kellner, Bernd Wissinger, Susanne Kohl, Elfride De Baere, Rob W. J. Collin and Robert K. Koenekoop

    Version of Record online : 15 SEP 2014, DOI: 10.1002/mgg3.109

  15. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 103, Issue 7, July 2015, Pages: 630–640, Brett Deml, Linda M. Reis, Sanaa Muheisen, David Bick and Elena V. Semina

    Version of Record online : 27 JUN 2015, DOI: 10.1002/bdra.23397

  16. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

    Clinical & Experimental Ophthalmology

    Volume 35, Issue 5, July 2007, Pages: 473–485, Robert K Koenekoop, Irma Lopez, Anneke I Den Hollander, Rando Allikmets and Frans PM Cremers

    Version of Record online : 21 JUL 2007, DOI: 10.1111/j.1442-9071.2007.01534.x

  17. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 118–128, Chahira Kozma, Anne M. Slavotinek and Jeanne M. Meck

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20332

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    Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II

    Human Mutation

    Volume 28, Issue 12, December 2007, Page: 1245, Sylvie Gerber, Sylvain Hanein, Isabelle Perrault, Nathalie Delphin, Nisrine Aboussair, Corinne Leowski, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Josseline Kaplan and Jean-Michel Rozet

    Version of Record online : 13 NOV 2007, DOI: 10.1002/humu.9513

  19. Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum

    American Journal of Medical Genetics Part A

    Volume 173, Issue 6, June 2017, Pages: 1698–1704, Aideen M. McInerney-Leo, Lawrie Wheeler, Mhairi S. Marshall, Lisa K. Anderson, Andreas Zankl, Matthew A. Brown, Paul J. Leo, Carol Wicking and Emma L. Duncan

    Version of Record online : 19 APR 2017, DOI: 10.1002/ajmg.a.38215

  20. Mutation analysis of B3GALTL in Peters Plus syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 20, 15 October 2008, Pages: 2603–2610, Linda M. Reis, Rebecca C. Tyler, Omar Abdul-Rahman, Pamela Trapane, Robert Wallerstein, Diane Broome, Jodi Hoffman, Aneal Khan, Christina Paradiso, Nitin Ron, Amanda Bergner and Elena V. Semina

    Version of Record online : 16 SEP 2008, DOI: 10.1002/ajmg.a.32498