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There are 2589 results for: content related to: Thoracic Aortic Aneurysm in Infancy in Aneurysms– O steoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype

  1. Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1189–1193, J. Román Corona-Rivera, Juan Carlos Zenteno, Erika Pelcastre-Luna, Karla Miguel-Jiménez, Rafael L. Aguirre-Guillén, Jesús Cabral-Macías, Christian Peña-Padilla, Lucina Bobadilla-Morales and Alfredo Corona-Rivera

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35854

  2. 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

    Article first published online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  3. 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

    Article first published online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  4. Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1002–1007, Seth M. Weinberg, Trish E. Parsons, Melissa R. Fogel, Courtney P. Walter, Amy L. Conrad and Peg Nopoulos

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35835

  5. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1376–1380, Marije E.C. Meuwissen, Maarten H. Lequin, Karen Bindels-de Heus, Hennie T. Bruggenwirth, Maarten F.C.M. Knapen, Michiel Dalinghaus, René de Coo, Yolande van Bever, Beerend H.J. Winkelman and Grazia M.S. Mancini

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35858

  6. 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

    Article first published online : 6 AUG 2013, DOI: 10.1002/ajmg.a.35437

  7. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Article first published online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

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    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

    Article first published online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  9. 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

    Article first published online : 18 SEP 2013, DOI: 10.1002/ajmg.a.35205

  10. 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

    Article first published online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  11. Summarizing craniofacial genetics and developmental biology (SCGDB)

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 884–891, Brian K. Hall

    Article first published online : 30 JAN 2014, DOI: 10.1002/ajmg.a.35288

  12. Delineation of a region responsible for panhypopituitarism in 20p11.2

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1547–1554, Manal Dayem-Quere, Fabienne Giuliano, Kathy Wagner-Mahler, Christophe Massol, Letizia Crouzet-Ozenda, Jean-Claude Lambert and Houda Karmous-Benailly

    Article first published online : 8 MAY 2013, DOI: 10.1002/ajmg.a.35921

  13. 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

    Article first published online : 22 MAY 2013, DOI: 10.1002/ajmg.a.35957

  14. 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

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  15. 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

  16. Epigenetic studies in Alzheimer's disease: Current findings, caveats, and considerations for future studies

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 8, December 2013, Pages: 789–799, Katie Lunnon and Jonathan Mill

    Article first published online : 13 SEP 2013, DOI: 10.1002/ajmg.b.32201

  17. 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

  18. 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

  19. 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

  20. You have free access to this content
    Association of genetic risk severity with ADHD clinical characteristics

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 162, Issue 7, October 2013, Pages: 718–733, Amelia Kotte, Stephen V. Faraone and Joseph Biederman

    Article first published online : 17 OCT 2013, DOI: 10.1002/ajmg.b.32171