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There are 15796 results for: content related to: Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation

  1. Perspectives on asymmetry: The erickson lecture

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 2981–2998, M. Michael Cohen Jr.

    Article first published online : 6 NOV 2012, DOI: 10.1002/ajmg.a.34348

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    Elements of morphology: Standard terminology for the hands and feet

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 93–127, Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple and Helga Toriello

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32596

    Corrected by:

    Corrigendum: Corrigendum to “Elements of Morphology: Standard Terminology for the Hands and Feet. Am J Med Genet 2009 149A:93–127”

    Vol. 158A, Issue 7, 1813, Article first published online: 18 JUN 2012

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    Elements of morphology: Standard terminology for the ear

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 40–60, Alasdair Hunter, Jaime L. Frias, Gabriele Gillessen-Kaesbach, Helen Hughes, Kenneth Lyons Jones and Louise Wilson

    Article first published online : 16 JAN 2009, DOI: 10.1002/ajmg.a.32599

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    Elements of morphology: Standard terminology for the head and face

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 6–28, Judith E. Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Max Muenke and Giovanni Neri

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32612

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    Elements of morphology: Standard terminology for the nose and philtrum

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 61–76, Raoul C.M. Hennekam, Valerie Cormier-Daire, Judith G. Hall, Károly Méhes, Michael Patton and Roger E. Stevenson

    Article first published online : 16 JAN 2009, DOI: 10.1002/ajmg.a.32600

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    Elements of morphology: Standard terminology for the lips, mouth, and oral region

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 77–92, John C. Carey, M. Michael Cohen Jr., Cynthia J.R. Curry, Koenraad Devriendt, Lewis B. Holmes and Alain Verloes

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32602

  7. Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 90–96, Young Bae Sohn, Eun Wha Choi, Su Jin Kim, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Soo In Jeong, June Huh, I-Seok Kang, Heung Jae Lee, Kyung-Hoon Paik and Dong-Kyu Jin

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34371

  8. Auriculo-condylar syndrome. Confronting a diagnostic challenge

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 59–65, Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Siulan Vendramini-Pittoli, Vanessa Luiza Romanelli Tavares, Maria Rita Passos-Bueno and Maria Leine Guion-Almeida

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34337

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    Elements of morphology: Standard terminology for the periorbital region

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 1, January 2009, Pages: 29–39, Bryan D. Hall, John M. Graham Jr., Suzanne B. Cassidy and John M. Opitz

    Article first published online : 5 JAN 2009, DOI: 10.1002/ajmg.a.32597

  10. Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 206–214, Carlos A. Tirado, Garrett Gotway, Emmanuel Torgbe, Santha Iyer, Stephanie Dallaire, Taylor Appleberry, Mohamed Suterwala, Rolando Garcia, Federico Valdez, Sangeeta Patel and Prasad Koduru

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34364

  11. Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 188–192, Piranit N. Kantaputra, Oranart Matangkasombut and Warissara Sripathomsawat

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34356

  12. Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 155–158, Amelia R. Mroch, Mark Laudenschlager and Jason D. Flanagan

    Article first published online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34344

  13. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 182–187, Jane Gillis, Elena Burashnikov, Charles Antzelevitch, Susan Blaser, Gil Gross, Lesley Turner, Riyana Babul-Hirji and David Chitayat

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34355

  14. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 236–244, Hülya Kayserili, U. Altunoglu, H. Ozgur, S. Basaran and Z.O. Uyguner

    Article first published online : 2 DEC 2011, DOI: 10.1002/ajmg.a.34390

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    Vascular update: Morphogenesis, tumors, malformations, and molecular dimensions

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2013–2038, M. Michael Cohen Jr.

    Article first published online : 6 SEP 2006, DOI: 10.1002/ajmg.a.31333

  16. The new bone biology: Pathologic, molecular, and clinical correlates

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 23, 1 December 2006, Pages: 2646–2706, M. Michael Cohen Jr.

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31368

  17. Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3170–3173, Juliette Piard, Christel Depienne, Boris Keren, Estelle Fédirko, Oriane Trouillard, Perrine Charles and Delphine Heron

    Article first published online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34334

  18. Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 247–250, Masaki Takagi, Saori Kaneko-Schmitt, Nobuhiro Suzumori, Gen Nishimura and Tomonobu Hasegawa

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34358

  19. Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 [RIGHTWARDS ARROW] q12.1 and 19p12 [RIGHTWARDS ARROW] q12 regions in a child featuring multiple congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3116–3121, Xiang Fei, Manlong Qi, Yanyan Zhao and Jesse Li-Ling

    Article first published online : 8 NOV 2011, DOI: 10.1002/ajmg.a.34346

  20. Duplication of the ZIC2 gene is not associated with holoprosencephaly

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 1, January 2012, Pages: 103–108, Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E. Warburton, Brynn Levy and Dorothy Warburton

    Article first published online : 21 NOV 2011, DOI: 10.1002/ajmg.a.34375