Search Results

There are 3378 results for: content related to: Gene therapy shows potential as Usher syndrome treatment

  1. You have free access to this content
    Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  2. You have free access to this content
    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Article first published online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  3. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1792–1796, Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat

    Article first published online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36036

  4. You have full text access to this OnlineOpen article
    Long term follow-up of four patients with Keutel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2849–2856, H.E. Khosroshahi, S.C. Sahin, Y. Akyuz and H. Ede

    Article first published online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36699

  5. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 461–475, Paulien A. Terhal, Rutger Jan A. J. Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen E. H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton-Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra-Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa M. Lees, Louise C. Wilson, Alison Male, Jane Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M. H. F. Bongers, Valerie Cormier-Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder-Espinasse, Nicolette den Hollander, Tessa Homfray, Hanne D. Hove, Susan Price, Annick Raas-Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine V. Knoers, Paul Coucke and Geert R. Mortier

    Article first published online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36922

  6. Classic phenotype of Coffin–lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 516–521, Kitiwan Rojnueangnit, Julie R. Jones, Monica J. Basehore and Nathaniel H. Robin

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36299

  7. ADAM “sequence” part II: Hypothesis and speculation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 478–503, John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

    Article first published online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  8. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2775–2792, Judith G. Hall

    Article first published online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  9. Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2147–2152, Tawfeg Ben-Omran, Shenela Lakhani, Mariam Almureikhi, Rehab Ali, Atsushi Takahashi, Noriko Miyake, Naomichi Matsumoto, Shiro Ikegawa, Andrea Superti-Furga and Sheila Unger

    Article first published online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36632

  10. Growth charts for individuals with Rubinstein–Taybi syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2300–2309, Lex Beets, Cristina Rodríguez-Fonseca and Raoul C. Hennekam

    Article first published online : 2 JUL 2014, DOI: 10.1002/ajmg.a.36654

  11. You have free access to this content
    If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Article first published online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  12. You have free access to this content
    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2697–2703, G. Neri, R. Marini, M. Cappa, P. Borrelli and J.M. Opitz

    Article first published online : 24 OCT 2013, DOI: 10.1002/ajmg.a.36317

  13. Endocrine abnormalities in townes–brocks syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2266–2273, Cara Lawrence, Irene Hong-McAtee, Bryan Hall, James Hartsfield, Andrew Rutherford, Tracy Bonilla and Carolyn Bay

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36104

  14. A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2056–2059, Karen Low, James Smith, Simon Lee and Ruth Newbury-Ecob

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36016

  15. The extraordinary career of Professor Dr. Simon van Creveld

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2689–2700, Paul J. W. Stoelinga, Walter E. Berdon and M. Michael Cohen Jr.

    Article first published online : 30 SEP 2014, DOI: 10.1002/ajmg.a.36334

  16. Hemiconvulsion–hemiplegia–epilepsy syndrome with 1q44 microdeletion: Causal or chance association

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 186–189, Rekha Gupta, Meenal Agarwal, Vijay R. Boqqula, Rajendra V. Phadke and Shubha R. Phadke

    Article first published online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36198

  17. A new patient with LACHT syndrome (Mardini–Nyhan association)

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 400–402, Tahir Atik, Huseyin Ozan Torun, Ozgur Cogulu and Ferda Ozkinay

    Article first published online : 8 DEC 2014, DOI: 10.1002/ajmg.a.36832

  18. Unusual isochromosome 5p marker chromosome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 455–459, Fanny Roulet-Coudrier, Amine Rouibi, Clotilde Thuillier, Sylvie Bourthoumieu, Aziza Lebbar, Jean-Michel Dupont and Catherine Yardin

    Article first published online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36843

  19. Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2352–2357, Alexander Janssen, Mohammad J. Hosen, Philippe Jeannin, Paul J. Coucke, Anne De Paepe and Olivier M. Vanakker

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36077

  20. You have free access to this content
    Twenty-one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 151–155, C. Knopp, S. Rudnik-Schöneborn, K. Zerres, M. Gencik, S. Spengler and T. Eggermann

    Article first published online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36825