Search Results

There are 6545 results for: content related to: Overlap of PIV syndrome, VACTERL and Pallister–Hall syndrome: clinical and molecular analysis

  1. The VACTERL association: lessons from the Sonic hedgehog pathway

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 306–315, JH Kim, PCW Kim and C-C Hui

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590503.x

  2. An overview of isolated and syndromic oesophageal atresia

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 392–399, D Geneviève, L De Pontual, J Amiel, S Sarnacki and S Lyonnet

    Article first published online : 2 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00798.x

  3. Hedgehog signaling and congenital malformations

    Clinical Genetics

    Volume 67, Issue 3, March 2005, Pages: 193–208, E Nieuwenhuis and C-c Hui

    Article first published online : 20 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00360.x

  4. When body segmentation goes wrong

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 409–416, O Pourquié and K Kusumi

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600602.x

  5. Clinical geneticists' views of VACTERL/VATER association

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3087–3100, Benjamin D. Solomon, Kelly A. Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw-Smith, Dick Tibboel, Heiko Reutter and Philip F. Giampietro

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35638

  6. 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

  7. 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

  8. 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

  9. Split Hand Foot Malformation (SHFM)

    Clinical Genetics

    Volume 68, Issue 6, December 2005, Pages: 501–505, AM Elliott, JA Evans and AE Chudley

    Article first published online : 18 OCT 2005, DOI: 10.1111/j.1399-0004.2005.00530.x

  10. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet

    Clinical Genetics

    Volume 82, Issue 5, November 2012, Pages: 502–504, MM Al-Qattan

    Article first published online : 20 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01866.x

  11. Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations

    Clinical Genetics

    Volume 68, Issue 4, October 2005, Pages: 320–326, LG Biesecker

    Article first published online : 2 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00509.x

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion

    Clinical Genetics

    Volume 61, Issue 6, June 2002, Pages: 468–471, B Doray, F Becmeur, F Girard-Lemaire, C Schluth and E Flori

    Article first published online : 11 JUL 2002, DOI: 10.1034/j.1399-0004.2002.610613.x

  18. 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

  19. 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

  20. Chimera and other fertilization errors

    Clinical Genetics

    Volume 70, Issue 5, November 2006, Pages: 363–373, V Malan, M Vekemans and C Turleau

    Article first published online : 14 SEP 2006, DOI: 10.1111/j.1399-0004.2006.00689.x