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There are 31182 results for: content related to: Novel and recurrent germline LEMD3 mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis

  1. Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers

    Clinical Genetics

    Volume 65, Issue 1, January 2004, Pages: 11–16, M Christiansen, SO Larsen, C Oxvig, Q-P Qin, JM Wagner, MT Overgaard, GJ Gleich, L Sottrup-Jensen and B Nørgaard-Pedersen

    Article first published online : 10 DEC 2003, DOI: 10.1111/j..2004.00177.x

  2. 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

  3. 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

  4. 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

  5. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

    Clinical Genetics

    Volume 75, Issue 5, May 2009, Pages: 465–472, ATJM Helderman-van den Enden, R De Jong, JT Den Dunnen, JJ Houwing-Duistermaat, ALJ Kneppers, HB Ginjaar, MH Breuning and E Bakker

    Article first published online : 15 APR 2009, DOI: 10.1111/j.1399-0004.2009.01173.x

  6. 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

  7. 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

  8. 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

  9. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

    Clinical Genetics

    Volume 75, Issue 5, May 2009, Pages: 457–464, R Quental, L Azevedo, V Rubio, L Diogo and A Amorim

    Article first published online : 21 APR 2009, DOI: 10.1111/j.1399-0004.2009.01172.x

  10. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

    Clinical Genetics

    Volume 76, Issue 1, July 2009, Pages: 38–45, A Sarpong, a G Schottmann, b K Rüther, c G Stoltenburg, d A Kohlschütter, e C Hübner and a M Schuelke a,f

    Article first published online : 21 MAY 2009, DOI: 10.1111/j.1399-0004.2009.01179.x

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. The molecular basis of variation in human color vision

    Clinical Genetics

    Volume 67, Issue 5, May 2005, Pages: 369–377, SS Deeb

    Article first published online : 22 FEB 2005, DOI: 10.1111/j.1399-0004.2004.00343.x

  20. 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