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There are 15552 results for: content related to: Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

  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

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  2. 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

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  3. 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

  4. 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

  5. Genetic advances in craniosynostosis

    American Journal of Medical Genetics Part A

    Wanda Lattanzi, Marta Barba, Lorena Di Pietro and Simeon A. Boyadjiev

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

  6. 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

  7. 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

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  8. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  9. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  10. 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

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  11. 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

  12. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2274–2280, M.M. Al-Qattan

    Version of Record online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  13. You have free access to this content
    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

  14. 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

  15. 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

    Version of Record online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

  16. Complete and pure trisomy 18p due to a complex chromosomal rearrangement in a male adult with mild intellectual disability

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1806–1812, Kristina Orendi, Sabine Uhrig, Monika Mach, Petra Tschepper and Michael R. Speicher

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35986

  17. Chimerism in monochorionic dizygotic twins: Case study and review

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1817–1824, Kristen Chen, Ramen H. Chmait, Douglas Vanderbilt, Samuel Wu and Linda Randolph

    Version of Record online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

  18. 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

  19. Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1167–1172, Ina E. Amarillo, Katrina M. Dipple and Fabiola Quintero-Rivera

    Version of Record online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35847

  20. Pediatric glaucoma terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3205–3215, Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

    Version of Record online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205