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There are 2414 results for: content related to: GAPO syndrome associated with vestibular dysfunction and hearing loss

  1. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  2. 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

  3. You have free access to this content
    Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  4. 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

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    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

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    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

  7. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  8. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Article first published online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  9. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Article first published online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

  10. Modeling AEC—New approaches to study rare genetic disorders

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2443–2454, Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

    Article first published online : 24 MAR 2014, DOI: 10.1002/ajmg.a.36455

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    Historical perspective on developmental concepts and terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2711–2725, John M. Opitz and Giovanni Neri

    Article first published online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36244

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    The growing complexity of the intestinal polyposis syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2777–2787, Emanuela Lucci-Cordisco, Mauro Risio, Tiziana Venesio and Maurizio Genuardi

    Article first published online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36253

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    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Article first published online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

  14. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  15. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1345–1353, Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  16. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Article first published online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  17. 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

  18. Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 859–873, Judith G. Hall

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36397

  19. You have full text access to this OnlineOpen article
    International guidelines for the management and treatment of Morquio A syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 11–25, Christian J. Hendriksz, Kenneth I. Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G. Mackenzie, Julian Raiman, Martha Solano Villarreal and Ravi Savarirayan

    Article first published online : 24 OCT 2014, DOI: 10.1002/ajmg.a.36833

  20. You have free access to this content
    Timing of diagnosis of patients with pompe disease: Data from the pompe registry

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2431–2443, Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer and on behalf of the Pompe Registry Boards of Advisors

    Article first published online : 30 AUG 2013, DOI: 10.1002/ajmg.a.36110