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There are 20435 results for: content related to: Expanding the phenotypic spectrum of Caffey disease

  1. 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

  2. A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype

    Clinical Genetics

    Volume 73, Issue 1, January 2008, Pages: 97–101, AM Lund, F Joensen, E Christensen, M Dunø, F Skovby and M Schwartz

    Article first published online : 19 NOV 2007, DOI: 10.1111/j.1399-0004.2007.00926.x

  3. Novel and recurrent germline LEMD3 mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis

    Clinical Genetics

    Volume 75, Issue 6, June 2009, Pages: 556–561, Y Zhang, M Castori, G Ferranti, M Paradisi and BP Wordsworth

    Article first published online : 5 MAY 2009, DOI: 10.1111/j.1399-0004.2009.01177.x

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    Erratum

    Vol. 79, Issue 4, 401, Article first published online: 4 MAR 2011

  4. Intelligent Road Sign Inventory (IRSI) with Image Recognition and Attribute Computation from Video Log

    Computer-Aided Civil and Infrastructure Engineering

    Volume 28, Issue 2, February 2013, Pages: 130–145, Zhaozheng Hu

    Article first published online : 26 JUN 2012, DOI: 10.1111/j.1467-8667.2012.00768.x

  5. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype–phenotype correlation

    Clinical Genetics

    Volume 79, Issue 5, May 2011, Pages: 448–458, SK Hashmi, C Allen, R Klaassen, CV Fernandez, R Yanofsky, E Shereck, J Champagne, M Silva, JH Lipton, J Brossard, Y Samson, S Abish, M Steele, K Ali, N Dower, U Athale, L Jardine, JP Hand, J Beyene and Y Dror

    Article first published online : 22 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01468.x

  6. Can Rich Countries Become Pollution Havens?

    Review of International Economics

    Volume 16, Issue 4, September 2008, Pages: 627–640, Victoria I. Umanskaya and Edward B. Barbier

    Article first published online : 19 AUG 2008, DOI: 10.1111/j.1467-9396.2008.00768.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. 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

  10. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 73, Issue 4, April 2008, Pages: 320–330, M Shoukier, U Teske, A Weise, W Engel and L Argyriou

    Article first published online : 26 FEB 2008, DOI: 10.1111/j.1399-0004.2008.00968.x

  11. Toward understanding the genetic basis of neural tube defects

    Clinical Genetics

    Volume 71, Issue 4, April 2007, Pages: 295–310, Z Kibar, V Capra and P Gros

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1399-0004.2007.00793.x

  12. Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

    Clinical Genetics

    Volume 71, Issue 1, January 2007, Pages: 67–75, M Leipoldt, M Erdel, GA Bien-Willner, M Smyk, M Theurl, SA Yatsenko, JR Lupski, AH Lane, AL Shanske, P Stankiewicz and G Scherer

    Article first published online : 14 DEC 2006, DOI: 10.1111/j.1399-0004.2007.00736.x

  13. Niemann–Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2

    Clinical Genetics

    Volume 71, Issue 4, April 2007, Pages: 320–330, L Verot, K Chikh, E Freydière, R Honoré, MT Vanier and G Millat

    Article first published online : 25 APR 2007, DOI: 10.1111/j.1399-0004.2007.00782.x

  14. Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC

    Clinical Genetics

    Volume 71, Issue 2, February 2007, Pages: 130–139, A Stella, NC Surdo, P Lastella, D Barana, C Oliani, MG Tibiletti, A Viel, C Natale, A Piepoli, G Marra and G Guanti

    Article first published online : 8 JAN 2007, DOI: 10.1111/j.1399-0004.2007.00745.x

  15. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis

    Clinical Genetics

    Volume 71, Issue 5, May 2007, Pages: 406–414, W Chen, NC Meyer, MJ McKenna, M Pfister, DJ McBride Jr, K Fukushima, M Thys, GV Camp and RJH Smith

    Article first published online : 2 MAY 2007, DOI: 10.1111/j.1399-0004.2007.00794.x

  16. Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X-linked mental retardation

    Clinical Genetics

    Volume 70, Issue 6, December 2006, Pages: 509–515, M Field, P Tarpey, J Boyle, S Edkins, J Goodship, Y Luo, J Moon, J Teague, MR Stratton, PA Futreal, R Wooster, FL Raymond and G Turner

    Article first published online : 10 NOV 2006, DOI: 10.1111/j.1399-0004.2006.00723.x

  17. The residual stress intensity factors for cold-worked cracked holes: a technical note

    Fatigue & Fracture of Engineering Materials & Structures

    Volume 27, Issue 9, September 2004, Pages: 879–886, P. M. G. P. MOREIRA, P. F. P. DE MATOS, S. T. PINHO, Ş. D. PASTRAMǍ, P. P. CAMANHO and P. M. S. T. DE CASTRO

    Article first published online : 7 OCT 2008, DOI: 10.1111/j.1460-2695.2004.00768.x

  18. 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

  19. 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

  20. 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