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There are 16596 results for: content related to: Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

  1. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: The Zlotogora-Ogur syndrome

    American Journal of Medical Genetics

    Volume 36, Issue 4, August 1990, Pages: 473–476, Elaine S. O. Rodini and A. Richieri-Costa

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360420

  2. You have free access to this content
    Ectodermal dysplasias: Clinical and molecular review

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1980–2002, Átila F. Visinoni, Toni Lisboa-Costa, Nina A.B. Pagnan and Eleidi A. Chautard-Freire-Maia

    Article first published online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32864

  3. Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: A new multiple malformation syndrome

    American Journal of Medical Genetics

    Volume 70, Issue 3, 13 June 1997, Pages: 211–215, Hans Peter M. Freihofer, Sajjad Walji and Han G. Brunner

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970613)70:3<211::AID-AJMG1>3.0.CO;2-Z

  4. Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient

    The Journal of Dermatology

    Volume 42, Issue 7, July 2015, Pages: 715–719, Kazue Yoshida, Ryota Hayashi, Hideki Fujita, Masaya Kubota, Mai Kondo, Yutaka Shimomura and Hironori Niizeki

    Article first published online : 24 APR 2015, DOI: 10.1111/1346-8138.12882

  5. Molecular basis of autosomal recessive diseases among the Palestinian Arabs

    American Journal of Medical Genetics

    Volume 109, Issue 3, 1 May 2002, Pages: 176–182, Joël Zlotogora

    Article first published online : 16 APR 2002, DOI: 10.1002/ajmg.10328

  6. EEC syndrome: Report on 20 new patients, clinical and genetic considerations

    American Journal of Medical Genetics

    Volume 37, Issue 1, September 1990, Pages: 42–53, Elaine S. O. Rodini and A. Richieri-Costa

    Article first published online : 8 JUN 2005, DOI: 10.1002/ajmg.1320370112

  7. Ectodermal dysplasias: A clinical classification and a causal review

    American Journal of Medical Genetics

    Volume 53, Issue 2, 1 November 1994, Pages: 153–162, Dr. Marta Pinheiro and Newton Freire-Maia

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320530207

  8. Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly

    American Journal of Medical Genetics

    Volume 42, Issue 3, 1 February 1992, Pages: 340–342, E. S. O. Rodini and A. Richieri-Costa

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420317

  9. Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 1, 15 May 2004, Pages: 74–80, Andreas Zankl, H. Scheffer and Albert Schinzel

    Article first published online : 26 NOV 2003, DOI: 10.1002/ajmg.a.20646

  10. You have free access to this content
    Ectodermal dysplasias: An overview and update of clinical and molecular-functional mechanisms

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 2003–2013, Manuela Priolo

    Article first published online : 5 JUN 2009, DOI: 10.1002/ajmg.a.32804

  11. Ectodermal Dysplasias

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Yuka Asai, Alan D. Irvine, Pages: 127.1–127.104, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch127

  12. Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: Delineation of cerebro-dermato-osseous-dysplasia

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 842–851, Marco Castori, Giulia Pascolini, Valentina Parisi, Maria Elena Sana, Antonio Novelli, Peter Nürnberg, Maria Iascone and Paola Grammatico

    Article first published online : 23 FEB 2015, DOI: 10.1002/ajmg.a.36983

  13. You have full text access to this OnlineOpen article
    Genetics and genomic medicine in Israel

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 2, March 2014, Pages: 85–94, Joël Zlotogora

    Article first published online : 13 MAR 2014, DOI: 10.1002/mgg3.73

  14. Alopecia Universalis, Cleft Palate and Lip, Hypohydrosis, Hypodontia, Nail Dysplasia and Syndactyly: New Ectodermal Dysplasia Syndrome?

    Congenital Anomalies

    Volume 39, Issue 1, March 1999, Pages: 37–42, Ghada M.E. ABDEL-SALAM, M. BUCSEK and A.E. CZEIZEL

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1741-4520.1999.tb00988.x

  15. Relative prevalence of malformations at birth among different religious communities in Israel

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 1, 15 September 2003, Pages: 59–62, Joël Zlotogora, Ziona Haklai, Naama Rotem, Moriah Georgi, Itzhak Berlovitz, Alex Leventhal and Yona Amitai

    Article first published online : 15 MAY 2003, DOI: 10.1002/ajmg.a.20229

  16. Genetics and Genodermatoses

    Rook's Textbook of Dermatology, Seventh Edition

    J. I. Harper, R. C. Trembath, Pages: 383–468, 2008

    Published Online : 4 FEB 2008, DOI: 10.1002/9780470750520.ch12

  17. Tetra-amelia and lung hypo/aplasia syndrome: New case report and review

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 21, 1 November 2008, Pages: 2799–2803, Sérgio B. Sousa, Raquel Pina, Lina Ramos, Naigel Pereira, Martin Krahn, Wiktor Borozdin, Jürgen Kohlhase, Marta Amorim, Katia Gonnet, Nicolas Lévy, Isabel M. Carreira, Ana Bela Couceiro and Jorge M. Saraiva

    Article first published online : 3 OCT 2008, DOI: 10.1002/ajmg.a.32489

  18. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity

    American Journal of Medical Genetics

    Volume 68, Issue 4, 11 February 1997, Pages: 472–475, Joël Zlotogora

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970211)68:4<472::AID-AJMG20>3.0.CO;2-O

  19. Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 15, 1 August 2006, Pages: 1644–1646, Joël Zlotogora, Saleh Barges, Bishara Bisharat and Stavit A. Shalev

    Article first published online : 7 JUL 2006, DOI: 10.1002/ajmg.a.31342

  20. “New” ectodermal dysplasia with mental retardation and syndactyly

    American Journal of Medical Genetics

    Volume 58, Issue 4, 25 September 1995, Pages: 345–347, Helena G. Ilyina, Dmitry S. Amoashy and Helena A. Grygory

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320580408