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There are 27880 results for: content related to: The Human Phenotype Ontology

  1. 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

  2. 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

  3. 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

  4. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

    Clinical Genetics

    Volume 79, Issue 1, January 2011, Pages: 60–70, R Shaheen, OY Al-Dirbashi, ZN Al-Hassnan, M Al-Owain, N Makhsheed, F Basheeri, MZ Seidahmed, MAM Salih, E Faqih, H Zaidan, M Al-Sayed, Z Rahbeeni, T Al-Sheddi, M Hashem, W Kurdi, N Shimozawa and FS Alkuraya

    Article first published online : 1 JUL 2010, DOI: 10.1111/j.1399-0004.2010.01498.x

  5. 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

  6. 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

  7. 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

  8. T-box genes and congenital heart/limb malformations

    Clinical Genetics

    Volume 66, Issue 4, October 2004, Page: no, D Isphording, AM Leylek, J Yeung, A Mischel and H-G Simon

    Article first published online : 16 AUG 2004, DOI: 10.1111/j.1399-0004.2004.00314.x

  9. Human syndromes with congenital patellar anomalies and the underlying gene defects

    Clinical Genetics

    Volume 68, Issue 4, October 2005, Pages: 302–319, EMHF Bongers, A Van Kampen, H Van Bokhoven and NVAM Knoers

    Article first published online : 2 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00508.x

  10. The molecular basis for developmental disorders of the pituitary gland in man

    Clinical Genetics

    Volume 57, Issue 5, May 2000, Pages: 337–346, Mt Dattani and Ic Robinson

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.570503.x

  11. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene

    Clinical Genetics

    Volume 80, Issue 6, December 2011, Pages: 510–522, T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge and J Gecz

    Article first published online : 18 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01685.x

  12. 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

  13. 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

  14. Evolutionary evidence of the effect of rare variants on disease etiology

    Clinical Genetics

    Volume 79, Issue 3, March 2011, Pages: 199–206, IP Gorlov, OY Gorlova, ML Frazier, MR Spitz and CI Amos

    Article first published online : 10 SEP 2010, DOI: 10.1111/j.1399-0004.2010.01535.x

  15. Breaking symmetry: a clinical overview of left-right patterning

    Clinical Genetics

    Volume 65, Issue 6, June 2004, Pages: 441–457, K Maclean and SL Dunwoodie

    Article first published online : 18 MAY 2004, DOI: 10.1111/j.0009-9163.2004.00258.x

  16. 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

  17. Identification of four novel mutations in five unrelated Korean families with Fabry disease

    Clinical Genetics

    Volume 58, Issue 3, September 2000, Pages: 228–233, J-K Lee, G-H Kim, J-S Kim, K-K Kim, M-C Lee and H-W Yoo

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.580311.x

  18. New insights in congenital bowing of the femora

    Clinical Genetics

    Volume 66, Issue 3, September 2004, Pages: 169–176, V Cormier-Daire, D Geneviève, A Munnich and M Le Merrer

    Article first published online : 20 AUG 2004, DOI: 10.1111/j.0009-9163.2004.00307.x

  19. Homozygosity for a novel DTDST mutation in a child with a ‘broad bone-platyspondylic’ variant of diastrophic dysplasia

    Clinical Genetics

    Volume 56, Issue 1, July 1999, Pages: 71–76, André Mégarbané, Fady A. Haddad, Soha Haddad-Zebouni, Mitri Achram, Georg Eich, Martine Le Merrer and Andrea Superti-Furga

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560110.x

  20. Genetic epidemiology of alpha-1 antitrypsin deficiency in southern Europe: France, Italy, Portugal and Spain

    Clinical Genetics

    Volume 63, Issue 6, June 2003, Pages: 490–509, FJ De Serres, I Blanco and E Fernández-Bustillo

    Article first published online : 3 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00078.x