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There are 7059 results for: content related to: Adams–Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes

  1. Human HOX gene mutations

    Clinical Genetics

    Volume 59, Issue 1, January 2001, Pages: 1–11, FR Goodman and PJ Scambler

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590101.x

  2. A novel microdeletion at chromosome 2q31.1-31.2 in a three-generation family presenting duplication of great toes with clinodactyly

    Clinical Genetics

    Volume 75, Issue 5, May 2009, Pages: 449–456, L-P Tsai, H-M Liao, Y-J Chen, J-S Fang and C-H Chen

    Article first published online : 28 APR 2009, DOI: 10.1111/j.1399-0004.2008.01147.x

  3. Synpolydactyly: clinical and molecular advances

    Clinical Genetics

    Volume 73, Issue 2, February 2008, Pages: 113–120, S Malik and K-H Grzeschik

    Article first published online : 19 DEC 2007, DOI: 10.1111/j.1399-0004.2007.00935.x

  4. The developing limb and the control of the number of digits

    Clinical Genetics

    Volume 67, Issue 2, February 2005, Pages: 143–153, A Talamillo, Mf Bastida, M Fernandez-Teran and Ma Ros

    Article first published online : 28 JAN 2005, DOI: 10.1111/j.1399-0004.2005.00404.x

  5. The brachydactylies: a molecular disease family

    Clinical Genetics

    Volume 76, Issue 2, August 2009, Pages: 123–136, S Mundlos

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01238.x

  6. Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 85–90, CN Semerci, F Demirkan, M Özdemir, E Biskin, B Akin, H Bagci and NA Akarsu

    Article first published online : 9 JUN 2009, DOI: 10.1111/j.1399-0004.2009.01192.x

  7. Polyalamine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly

    Clinical Genetics

    Volume 76, Issue 3, September 2009, Pages: 300–302, M Wajid, Y Ishii, M Kurban, MB Dua-Awereh, Y Shimomura and AM Christiano

    Article first published online : 17 AUG 2009, DOI: 10.1111/j.1399-0004.2009.01213.x

  8. Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12

    Clinical Genetics

    Volume 69, Issue 6, June 2006, Pages: 518–524, S Malik, AA Abbasi, M Ansar, W Ahmad, MC Koch and K-H Grzeschik

    Article first published online : 2 MAY 2006, DOI: 10.1111/j.1399-0004.2006.00620.x

  9. Transcription factors in dysmorphology

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 137–143, Didier Lacombe

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550301.x

  10. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x

  11. Landmarks in genetics through philately: the tools used by dysmorphologists

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 105–108, AE Chudley

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00030.x

  12. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 99–105, H Schmidt, G Rudolph, M Hergersberg, K Schneider, S Moradi and T Meitinger*

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590206.x

  13. Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 93–97, M Faiyaz-Ul-Haque, SHE Zaidi, LM King, S Haque, M Patel, M Ahmad, T Siddique, W Ahmad, L-C Tsui and DH Cohn

    Article first published online : 25 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00369.x

  14. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 429–433, H Fujioka, T Ariga, K Horiuchi, M Otsu, H Igawa, K Kawashima, Y Yamamoto, T Sugihara and Y Sakiyama

    Article first published online : 10 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00431.x

  15. The long and the short of it: developmental genetics of the skeletal dysplasias

    Clinical Genetics

    Volume 57, Issue s1, April 1999, Pages: 50–59, Sandra D Dreyer, Guang Zhou and Brendan Lee

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.57si05.x

  16. Interpupillary distance in a normal black population

    Clinical Genetics

    Volume 55, Issue 3, March 1999, Pages: 182–191, EK Pivnick, ML Rivas, EA Tolley, SD Smith and GJ Presbury

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550306.x

  17. Partial DiGeorge syndrome in two patients with a 10p rearrangement

    Clinical Genetics

    Volume 55, Issue 4, April 1999, Pages: 269–276, Hilde Van Esch, Peter Groenen, Sarah Daw, Ann Poffyn, Maureen Holvoet, Peter Scambler, Jean-Pierre Fryns, Wim Van de Ven and Koen Devriendt

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550410.x

  18. A new classification system for primary lymphatic dysplasias based on phenotype

    Clinical Genetics

    Volume 77, Issue 5, May 2010, Pages: 438–452, F Connell, G Brice, S Jeffery, V Keeley, P Mortimer and S Mansour

    Article first published online : 11 FEB 2010, DOI: 10.1111/j.1399-0004.2010.01394.x

  19. Discrepancies in upper and lower limb patterning in split hand foot malformation

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 408–423, AM Elliott, MH Reed, T Roscioli and JA Evans

    Article first published online : 31 AUG 2005, DOI: 10.1111/j.1399-0004.2005.00511.x

  20. 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history

    Clinical Genetics

    Volume 55, Issue 6, June 1999, Pages: 398–415, Victor A McKusick, Juergen Naggert, Patsy Nishina and David Valle

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550603.x