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There are 8205 results for: content related to: Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

  1. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

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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

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

  3. 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

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  4. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  5. 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

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  6. 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

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

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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

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  8. 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

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

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    Solving the puzzle of spinal muscular atrophy: What are the missing pieces?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2836–2845, Francesco Danilo Tiziano, Judith Melki and Louise R. Simard

    Version of Record online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36251

  10. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

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    Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2860–2872, Fiorella Gurrieri and David B. Everman

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36239

  12. Mosaicism for trisomy 21: A review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 26–39, Paulie Papavassiliou, Chariyawan Charalsawadi, Kelly Rafferty and Colleen Jackson-Cook

    Version of Record online : 20 NOV 2014, DOI: 10.1002/ajmg.a.36861

  13. Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2276–2286, Morten Herlin, Allan T. Højland and Michael B. Petersen

    Version of Record online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36652

  14. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

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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

    Version of Record online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36244

  16. 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

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  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

    Version of Record online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  18. 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

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  19. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 141–155, Anne Wheeler, Melissa Raspa, Carla Bann, Ellen Bishop, David Hessl, Pat Sacco and Donald B. Bailey Jr.

    Version of Record online : 25 NOV 2013, DOI: 10.1002/ajmg.a.36232

  20. 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

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36397