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There are 12048 results for: content related to: Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen-like phenotype, severe intellectual disability, and autism

  1. 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

  2. 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

  3. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1406–1429, Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

    Version of Record online : 4 FEB 2017, DOI: 10.1002/ajmg.a.38159

  4. 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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    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

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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

  7. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3113–3120, Ines Quintela, Francisco Barros, Montse Fernandez-Prieto, Rocio Martinez-Regueiro, Manuel Castro-Gago, Angel Carracedo, Carmen Gomez-Lado and Jesus Eiris

    Version of Record online : 18 AUG 2015, DOI: 10.1002/ajmg.a.37291

  8. 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

  9. Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1923–1928, Eunice Matoso, Joana B. Melo, Susana I. Ferreira, Ana Jardim, Teresa M. Castelo, Anja Weise and Isabel M. Carreira

    Version of Record online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36032

  10. 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

  11. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Volume 170, Issue 8, August 2016, Pages: 2141–2172, Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  12. 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

  13. 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

  14. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

    American Journal of Medical Genetics Part A

    Volume 173, Issue 4, April 2017, Pages: 1017–1037, Tim Ripperger, Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C. Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M. Kramm, Michaela Kuhlen, Andreas E. Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R. Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H. Meyer, Olga Moser, Michaela Nathrath, Charlotte M. Niemeyer, Rainer Nustede, Kristian W. Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O. von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M. Pfister and Christian P. Kratz

    Version of Record online : 7 FEB 2017, DOI: 10.1002/ajmg.a.38142

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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

  16. 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

  17. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  18. 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

  19. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1666–1676, Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Mafalda Mucciolo, Annabella Marozza, Chiara Di Marco, Antonio Massarelli, Valentina Canocchi, Margherita Baldassarri, Enea Ndoni, Elisa Frullanti, Sonia Amabile, Britt Marie Anderlid, Kay Metcalfe, Cédric Le Caignec, Albert David, Alan Fryer, Odile Boute, Andrieux Joris, Donatella Greco, Vanna Pecile, Roberta Battini, Antonio Novelli, Marco Fichera, Corrado Romano, Francesca Mari and Alessandra Renieri

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36513

  20. Review of familial cerebral cavernous malformations and report of seven additional families

    American Journal of Medical Genetics Part A

    Volume 173, Issue 2, February 2017, Pages: 338–351, Ivo J. H. M. de Vos, Maaike Vreeburg, Ger H. Koek and Maurice A. M. van Steensel

    Version of Record online : 28 OCT 2016, DOI: 10.1002/ajmg.a.38028