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There are 9617 results for: content related to: Expansile Skeletal Hyperphosphatasia: A New Familial Metabolic Bone Disease

  1. Antithrombin III kumamoto II; A single mutation at Arg393-his increased the affinity of antithrombin III for heparin

    American Journal of Hematology

    Volume 48, Issue 1, January 1995, Pages: 12–18, Dr. Kenji Okajima, Hiroki Abe, Masako Wagatsuma, Hiroaki Okabe and Kiyoshi Takatsuki

    Version of Record online : 11 JUL 2006, DOI: 10.1002/ajh.2830480104

  2. Array-based genomic delineation of a familial duplication 11q14.1–q22.1 associated with recurrent depression

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 3, 5 April 2006, Pages: 214–219, Elena Kolomietz, Tawfeg Ben-Omran, David Chitayat, Mimi Mah, Jillian Murphy, Gloria Nie and Ikuko Teshima

    Version of Record online : 8 MAR 2006, DOI: 10.1002/ajmg.b.30297

  3. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 2, 15 July 2003, Pages: 157–168, Valentine J. Hyland, Stephen P. Robertson, Simon Flanagan, Ravi Savarirayan, Tony Roscioli, John Masel, Mark Hayes and Ian A. Glass

    Version of Record online : 11 FEB 2003, DOI: 10.1002/ajmg.a.20012

  4. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)

    American Journal of Medical Genetics

    Volume 57, Issue 1, 22 May 1995, Pages: 14–18, R. Stallard, S. Kruegor, R. S. James and S. Schwartz

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320570105

  5. Studies on the blood of a Co (a-b-) proposita and her family

    Transfusion

    Volume 27, Issue 3, May-June 1987, Pages: 268–271, P. A. Lacey, J. Robinson, M. L. Collins, D. G. Bailey, C. C. Evans, J. J. Moulds and G. L. Daniels

    Version of Record online : 5 MAR 2003, DOI: 10.1046/j.1537-2995.1987.27387235637.x

  6. A family showing inheritance of the Inab phenotype

    Transfusion

    Volume 28, Issue 5, September-October 1988, Pages: 427–429, R. C. Lin, J. Herman, L. Henry and G. L. Daniels

    Version of Record online : 5 MAR 2003, DOI: 10.1046/j.1537-2995.1988.28588337329.x

  7. A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 13, 1 July 2008, Pages: 1754–1760, Tiziano Pramparo, Manuela de Gregori, Stefania Gimelli, Roberto Ciccone, Domenico Frondizi, Thomas Liehr, Simona Pellacani, Gabriele Masi, Paola Brovedani, Orsetta Zuffardi and Renzo Guerrini

    Version of Record online : 10 JUN 2008, DOI: 10.1002/ajmg.a.32326

  8. A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1285–1294, Stefania Gimelli, Jacqueline Chrast, Anwar Baban, Charlotte N. Henrichsen, Margherita Lerone, Orsetta Zuffardi, Giorgio Gimelli and Alexandre Reymond

    Version of Record online : 13 APR 2010, DOI: 10.1002/ajmg.a.33365

  9. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: Cytogenetics, molecular, and methylation studies

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 1, 1 January 2006, Pages: 40–45, Giorgio Gimelli, Roberto Giorda, Silvana Beri, Stefania Gimelli and Orsetta Zuffardi

    Version of Record online : 6 DEC 2005, DOI: 10.1002/ajmg.a.31044

  10. Arachnodactyly and unusual dermatoglyphics: Study of a case

    American Journal of Medical Genetics

    Volume 31, Issue 1, September 1988, Pages: 57–62, Mrs. Anne J. Krush, Blanka A. Schaumann, Hagop Youssoufian, John M. Opitz and James F. Reynolds

    Version of Record online : 5 JUN 2005, DOI: 10.1002/ajmg.1320310109

  11. At(a−) phenotype: description of a family and reduced survival of At(a+) red cells in a proposita with anti-Ata

    Transfusion

    Volume 35, Issue 1, January 1995, Pages: 63–67, Joseph D. Sweeney, Stein Holme, Lee Ann McCall, Donna Huett, Jill Storry and Marion Reid

    Version of Record online : 28 FEB 2003, DOI: 10.1046/j.1537-2995.1995.35195090666.x

  12. Familial translocation 5;14 resulting in an unbalanced offspring

    American Journal of Medical Genetics

    Volume 39, Issue 3, 1 June 1991, Pages: 362–366, Jonathan P. Park, Matthew J. Edwards, John B. Moeschler, J. Miguel Marin-Padilla, Susan Z. Berg and Doris H. Wurster-Hill

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320390322

  13. Stable dicentric duplication-deficiency chromosome 14 resulting from crossing-over within a maternal paracentric inversion

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 333–338, Geneviève Lefort, Patricia Blanchet, Nabia Belgrade, François Rivier, Anne Marie Chaze, Pierre Sarda, Jacques Demaille and Franck Pellestor

    Version of Record online : 29 AUG 2002, DOI: 10.1002/ajmg.b.10720

  14. A Second Example of —/— or Rhnull Blood

    Transfusion

    Volume 5, Issue 6, November-December 1965, Pages: 492–500, Philip Levine, M. J. Celano, F. Falkowski, J. White Chambers, O. B. Hunter Jr. and C. T. English

    Version of Record online : 20 OCT 2009, DOI: 10.1111/j.1537-2995.1965.tb01193.x

  15. Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)

    American Journal of Medical Genetics

    Volume 49, Issue 4, 15 February 1994, Pages: 422–427, Jeffrey R. Sawyer, Emmett Jones, Flora F. Hawks, J. Gerald Quirk Jr. and Christopher Cunniff

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320490414

  16. Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers–Danlos syndrome type IV

    American Journal of Medical Genetics

    Volume 46, Issue 3, 15 May 1993, Pages: 278–283, Paolo Narcisi, Yuli Wu, Gerard Tromp, James J Earley, Allan J. Richards, F. Michael Pope and Helena Kuivaniemi

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320460308

  17. Identification of a novel A1v-O1v hybrid allele with G829A mutation in a chimeric individual of AelBel phenotype

    Transfusion

    Volume 46, Issue 5, May 2006, Pages: 780–789, Chien-Feng Sun, Ding-Ping Chen, Ching-Ping Tseng, Wei-Ting Wang and Jui-Ping Liu

    Version of Record online : 4 MAY 2006, DOI: 10.1111/j.1537-2995.2006.00799.x

  18. Studies on the blood of a Dc(e) homozygote and her family

    Transfusion

    Volume 28, Issue 5, September-October 1988, Pages: 439–443, P. D. Issitt, D. L. Smith, L. S. McCollister, M. R. Wren and S. K. Ballas

    Version of Record online : 5 MAR 2003, DOI: 10.1046/j.1537-2995.1988.28588337332.x

  19. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

    American Journal of Medical Genetics

    Volume 93, Issue 3, 31 July 2000, Pages: 244–249, Winnie Courtens, Anne Rassart, Jean-Jacques Stene and Esther Vamos

    Version of Record online : 28 JUL 2000, DOI: 10.1002/1096-8628(20000731)93:3<244::AID-AJMG17>3.0.CO;2-2

  20. Short duplication within the RHCE gene associated with an in cis deleted RHD causing a Rhnull amorph phenotype in an immunized pregnant woman with anti-Rh29

    Transfusion

    Volume 55, Issue 6pt2, June 2015, Pages: 1407–1410, Monique Silvy, Sophie Beley, Thierry Peyrard, Mouna Ouchari, Saadia Abdelkefi, Saloua Jemni Yacoub, Jacques Chiaroni and Pascal Bailly

    Version of Record online : 21 NOV 2014, DOI: 10.1111/trf.12937