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There are 6757 results for: content related to: Barth syndrome

  1. You have full text access to this OnlineOpen article
    The XY gene hypothesis of psychosis: Origins and current status

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 8, December 2013, Pages: 800–824, Timothy J. Crow

    Article first published online : 3 OCT 2013, DOI: 10.1002/ajmg.b.32202

  2. Genetic disorders associated with postnatal microcephaly

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 2, June 2014, Pages: 140–155, Laurie E. Seltzer and Alex R. Paciorkowski

    Article first published online : 16 MAY 2014, DOI: 10.1002/ajmg.c.31400

  3. The neuromuscular differential diagnosis of joint hypermobility

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 23–42, S. Donkervoort, C.G. Bonnemann, B. Loeys, H. Jungbluth and N.C. Voermans

    Article first published online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31433

  4. Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 3, September 2014, Pages: 241–251, Tomoki Kosho, Noriko Miyake and John C. Carey

    Article first published online : 28 AUG 2014, DOI: 10.1002/ajmg.c.31415

  5. Genetics of cleft lip and cleft palate

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 246–258, Elizabeth J. Leslie and Mary L. Marazita

    Article first published online : 4 OCT 2013, DOI: 10.1002/ajmg.c.31381

  6. Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 84–96, Marco Castori, Silvia Morlino, Giulia Ghibellini, Claudia Celletti, Filippo Camerota and Paola Grammatico

    Article first published online : 5 FEB 2015, DOI: 10.1002/ajmg.c.31426

  7. Molecular Findings in Beckwith–Wiedemann Syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 2, May 2013, Pages: 131–140, SANAA CHOUFANI, CHERYL SHUMAN and ROSANNA WEKSBERG

    Article first published online : 16 APR 2013, DOI: 10.1002/ajmg.c.31363

  8. Developmental and genetic perspectives on Pierre Robin sequence

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 295–305, Tiong Yang Tan, Nicky Kilpatrick and Peter G. Farlie

    Article first published online : 11 OCT 2013, DOI: 10.1002/ajmg.c.31374

  9. Endocrine Control of Growth

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    PHILIP G. MURRAY and PETER E. CLAYTON

    Article first published online : 9 APR 2013, DOI: 10.1002/j.1552-4876.2013.31357.x

  10. SWI/SNF chromatin remodeling complexes and cancer

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 3, September 2014, Pages: 350–366, Jaclyn A. Biegel, Tracy M. Busse and Bernard E. Weissman

    Article first published online : 28 AUG 2014, DOI: 10.1002/ajmg.c.31410

  11. Modeling anterior development in mice: Diet as modulator of risk for neural tube defects

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 333–356, Claudia Kappen

    Article first published online : 4 OCT 2013, DOI: 10.1002/ajmg.c.31380

  12. You have full text access to this OnlineOpen article
    Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1713–1733, Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E.R. Parker, Cathy Blumhorst, Thomas Darling, Laura L. Tosi, Susan M. Huson, Richard W. Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E. Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A. Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasic, John M. Graham Jr., Joseph Geer Jr., Alex Henderson, Robert K. Semple and Leslie G. Biesecker

    Article first published online : 29 APR 2014, DOI: 10.1002/ajmg.a.36552

  13. Clinical care in craniofacial microsomia: A review of current management recommendations and opportunities to advance research

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 271–282, C.L. Heike, A.V. Hing, C.A. Aspinall, S.P. Bartlett, C.B. Birgfeld, A.F. Drake, L.A. Pimenta, K.C. Sie, M.M. Urata, D. Vivaldi and D.V. Luquetti

    Article first published online : 16 OCT 2013, DOI: 10.1002/ajmg.c.31373

  14. You have full text access to this OnlineOpen article
    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

    Corrected by:

    Erratum: Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

    Article first published online: 27 FEB 2015

  15. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 6–22, Marina Colombi, Chiara Dordoni, Nicola Chiarelli and Marco Ritelli

    Article first published online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31429

  16. Embryonic cardiac chamber maturation: Trabeculation, conduction, and cardiomyocyte proliferation

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 3, August 2013, Pages: 157–168, Leigh Ann Samsa, Betsy Yang and Jiandong Liu

    Article first published online : 29 MAY 2013, DOI: 10.1002/ajmg.c.31366

  17. Polymicrogyria: A common and heterogeneous malformation of cortical development

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 2, June 2014, Pages: 227–239, Chloe A. Stutterd and Richard J. Leventer

    Article first published online : 28 MAY 2014, DOI: 10.1002/ajmg.c.31399

  18. Gastrointestinal and nutritional issues in joint hypermobility syndrome/ehlers–danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 1, March 2015, Pages: 54–75, Marco Castori, Silvia Morlino, Giulia Pascolini, Carlo Blundo and Paola Grammatico

    Article first published online : 26 MAR 2015, DOI: 10.1002/ajmg.c.31431

  19. The genetics of lissencephaly

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 2, June 2014, Pages: 198–210, Andrew E. Fry, Thomas D. Cushion and Daniela T. Pilz

    Article first published online : 23 MAY 2014, DOI: 10.1002/ajmg.c.31402

  20. Developmental trajectories in 22q11.2 deletion syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 2, June 2015, Pages: 172–181, Ann Swillen and Donna McDonald-McGinn

    Article first published online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31435