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There are 2991850 results for: content related to: Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

  1. Haplotype sharing test maps genes for familial cardiomyopathies

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 459–467, PA van der Zwaag, JP van Tintelen, F Gerbens, JDH Jongbloed, LG Boven, JJ van der Smagt, WP van der Roest, IM van Langen, H Bikker, RNW Hauer, MP van den Berg, RMW Hofstra and GJ te Meerman

    Article first published online : 22 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01472.x

  2. 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

  3. 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

  4. 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

  5. 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

  6. Identification of new cases of early-onset colorectal cancer with an MLH1 epimutation in an ethnically diverse South African cohort

    Clinical Genetics

    Volume 80, Issue 5, November 2011, Pages: 428–434, MP Hitchins, SE Owens, C-T Kwok, G Godsmark, UF Algar and RS Ramesar

    Article first published online : 4 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01660.x

  7. 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

  8. 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

  9. Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 442–447, G Ponti, M Ponz de Leon, S Maffei, M Pedroni, L Losi, C Di Gregorio, V Gismondi, A Scarselli, P Benatti, B Roncari, S Seidenari, G Pellacani, C Varotti, E Prete, L Varesco and L Roncucci

    Article first published online : 28 SEP 2005, DOI: 10.1111/j.1399-0004.2005.00519.x

  10. A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 91–101, G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabrò, M Iacomino, N Detta, LM Di Fonzo, V Maddaloni, R Calabrò and F Salvatore

    Article first published online : 15 JUL 2009, DOI: 10.1111/j.1399-0004.2009.01190.x

  11. 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

  12. Birth defects before epigenesis

    Clinical Genetics

    Volume 74, Issue 4, October 2008, Pages: 338–342, HA Tucker

    Article first published online : 28 JUN 2008, DOI: 10.1111/j.1399-0004.2008.01020.x

  13. Trisomy rescue by postzygotic unbalanced (X;14) translocation in a girl with dysmorphic features

    Clinical Genetics

    Volume 60, Issue 3, September 2001, Pages: 206–211, C Orellana, F Martínez, L Badía, JM Millán, MR Montero, J Andrés and F Prieto

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600306.x

  14. Short rib-polydactyly syndrome: more evidence of a continuous spectrum

    Clinical Genetics

    Volume 56, Issue 2, August 1999, Pages: 145–148, Kyriake Sarafoglou, Edmund F Funai, Nancy Fefferman, Laura Zajac, Nancy Geneiser, Michael J Paidas, Alba Greco and Robert Wallerstein

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560209.x

  15. The natural history of sclerosteosis

    Clinical Genetics

    Volume 63, Issue 3, March 2003, Pages: 192–197, H Hamersma, J Gardner and P Beighton

    Article first published online : 12 APR 2003, DOI: 10.1034/j.1399-0004.2003.00036.x

  16. 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

  17. 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

  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. 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

  20. The Ehlers–Danlos syndrome, a disorder with many faces

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 1–11, A De Paepe and F Malfait

    Article first published online : 15 MAR 2012, DOI: 10.1111/j.1399-0004.2012.01858.x