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There are 20890 results for: content related to: Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype

  1. Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome

    American Journal of Medical Genetics

    Volume 82, Issue 1, 1 January 1999, Pages: 84–87, Alfredo Orrico, Giuseppe Hayek and Luca Burroni

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990101)82:1<84::AID-AJMG16>3.0.CO;2-F

  2. Diagnostic evaluation of developmental delay/mental retardation: An overview

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

    Volume 117C, Issue 1, 15 February 2003, Pages: 3–14, Agatino Battaglia and John C. Carey

    Version of Record online : 9 JAN 2003, DOI: 10.1002/ajmg.c.10015

  3. Criminal Act or Palliative Care? Prosecutions Involving the Care of the Dying

    The Journal of Law, Medicine & Ethics

    Volume 26, Issue 4, December 1998, Pages: 308–331, Ann Alpers

    Version of Record online : 5 JUN 2007, DOI: 10.1111/j.1748-720X.1998.tb01678.x

  4. Case of apparent Gurrieri syndrome showing molecular findings of Angelman syndrome

    American Journal of Medical Genetics

    Volume 82, Issue 1, 1 January 1999, Page: 100, A. Battaglia and F. Gurrieri

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990101)82:1<100::AID-AJMG23>3.0.CO;2-F

  5. Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report

    American Journal of Medical Genetics

    Volume 51, Issue 3, 1 July 1994, Pages: 228–231, Prof. N. C. Nevin, J. Silvestri, D. C. Kernohan and W. M. Hutchinson

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320510311

  6. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 2, 15 January 2008, Pages: 238–244, Laura Bernardini, Chiara Palka, Caterina Ceccarini, Anna Capalbo, Irene Bottillo, Rita Mingarelli, Antonio Novelli and Bruno Dallapiccola

    Version of Record online : 13 DEC 2007, DOI: 10.1002/ajmg.a.32093

  7. A Japanese girl with mental retardation, severe microretrognathia, and brachydactyly: Another case of the Gurrieri syndrome

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 398–401, Takaya Nakane, Tomoko Tandou, Yumiko Mitsui, Hidemasa Hayashibe, Masao Aihara and Shinpei Nakazawa

    Version of Record online : 11 DEC 2002, DOI: 10.1002/ajmg.a.10181

  8. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia

    American Journal of Medical Genetics

    Volume 44, Issue 3, 1 October 1992, Pages: 315–320, F. Gurrieri, V. Sammito, A. Bellussi and G. Neri

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320440310

  9. You have free access to this content
    Frosted cylindrical lens induced artefact on Humphrey automated perimetry

    Clinical and Experimental Optometry

    Volume 89, Issue 1, January 2006, Pages: 26–29, V Sreenivasan, S Ve Ramesh, Ronnie George and M Baskaran

    Version of Record online : 23 DEC 2005, DOI: 10.1111/j.1444-0938.2006.00002.x

  10. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 352–363, Amy E. Roberts, Gerald F. Cox, Virginia Kimonis, Allen Lamb and Mira Irons

    Version of Record online : 6 JUL 2004, DOI: 10.1002/ajmg.a.30142

  11. Compactifications on half-flat manifolds

    Fortschritte der Physik

    Volume 53, Issue 3, March 2005, Pages: 278–336, S. Gurrieri

    Version of Record online : 3 FEB 2005, DOI: 10.1002/prop.200410196

  12. Mental retardation, epilepsy, short stature, and skeletal dysplasia: Confirmation of the Gurrieri syndrome

    American Journal of Medical Genetics

    Volume 62, Issue 3, 29 March 1996, Pages: 230–232, Agatino Battaglia, Eugenio Orsitto and Gaetano Gibilisco

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960329)62:3<230::AID-AJMG6>3.0.CO;2-X

  13. You have free access to this content
    CO2 flux measurements in volcanic areas using the dynamic concentration method: Influence of soil permeability

    Journal of Geophysical Research: Solid Earth (1978–2012)

    Volume 111, Issue B5, May 2006, M. Camarda, S. Gurrieri and M. Valenza

    Version of Record online : 20 MAY 2006, DOI: 10.1029/2005JB003898

  14. Mental retardation, Robin sequence, and brachydactyly: Further confirmation of a new syndrome

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 2, 15 April 2004, Pages: 204–207, Fiorella Gurrieri, Gioacchino Scarano, Livia Garavelli, Matteo Della Monica, Fortunato Lonardo, Domenico Cuda, Giacomo Banchini, John M. Opitz and Giovanni Neri

    Version of Record online : 21 OCT 2003, DOI: 10.1002/ajmg.a.20575

  15. Rearrangements of chromosome 15 in epilepsy

    American Journal of Medical Genetics

    Volume 106, Issue 2, Summer 2001, Pages: 125–128, Loredana Torrisi, Eugenio Sangiorgi, Lisa Russo and Fiorella Gurrieri

    Version of Record online : 4 SEP 2001, DOI: 10.1002/ajmg.1570

  16. Nearly-Kähler dimensional reduction of the heterotic string

    Fortschritte der Physik

    Volume 58, Issue 7-9, July 2010, Pages: 864–869, A. Chatzistavrakidis and G. Zoupanos

    Version of Record online : 16 MAR 2010, DOI: 10.1002/prop.201000031

  17. Protein profile study of breast-tissue homogenates by HPLC-LIF

    Journal of Biophotonics

    Volume 2, Issue 5, May 2009, Pages: 313–321, K. Kalyan Kumar, M. V. P. Chowdary, Stanley Mathew, Lakshmi Rao, C. Murali Krishna and Jacob Kurien

    Version of Record online : 28 JAN 2009, DOI: 10.1002/jbio.200810046

  18. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1375–1383, David B. Everman, Chad T. Morgan, Robert Lyle, Mary E. Laughridge, Michael J. Bamshad, Katie B. Clarkson, Randall Colby, Fiorella Gurrieri, A. Micheil Innes, Jacquelyn Roberson, Connie Schrander-Stumpel, Hans van Bokhoven, Stylianos E. Antonarakis and Charles E. Schwartz

    Version of Record online : 7 JUN 2006, DOI: 10.1002/ajmg.a.31246

  19. Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome

    American Journal of Medical Genetics

    Volume 59, Issue 4, 4 December 1995, Pages: 467–475, Orit Reish, Susan A. Berry and Betsy Hirsch

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320590413

  20. Mosaic trisomy 9 and lobar holoprosencephaly

    American Journal of Medical Genetics

    Volume 111, Issue 3, 15 August 2002, Pages: 295–300, Marion Gérard-Blanluet, Claude Danan, Martine Sinico, Françoise Lelong, Elsa Borghi, Gilles Dassieu, Jean-Claude Janaud, Sylvie Odent and Férechté Encha-Razavi

    Version of Record online : 7 JUN 2002, DOI: 10.1002/ajmg.10481