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There are 1492 results for: content related to: Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

  1. 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

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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

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    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

  5. 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

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  6. 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

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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

    Article first published online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36251

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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

  9. 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

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

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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

  11. 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

  12. 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

  13. 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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    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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    Epigenetics, fragile X syndrome and transcriptional therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2797–2808, Elisabetta Tabolacci and Pietro Chiurazzi

    Article first published online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36264

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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

    Article first published online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36239

  17. 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

    Article first published online : 26 JUN 2014, DOI: 10.1002/ajmg.a.36652

  18. A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2187–2199, Peter H. Langlois, Karen B. Moffitt and Angela E. Scheuerle

    Article first published online : 10 JUN 2014, DOI: 10.1002/ajmg.a.36623

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    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1470–1481, F.S. Van Dijk and D.O. Sillence

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36545

  20. Autism traits in children and adolescents with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1400–1410, Siddharth Srivastava, Colleen Landy-Schmitt, Bennett Clark, Antonie D. Kline, Matt Specht and Marco A. Grados

    Article first published online : 9 APR 2014, DOI: 10.1002/ajmg.a.36573