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There are 56815 results for: content related to: Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters

  1. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene

    Clinical Genetics

    G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L. G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza and C. Gervasini

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12348

  2. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

  3. Human facial dysostoses

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 499–510, D Wieczorek

    Article first published online : 8 APR 2013, DOI: 10.1111/cge.12123

  4. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

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    The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  6. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Article first published online : 26 NOV 2012, DOI: 10.1111/cge.12051

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    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  8. Ataxia telangiectasia: more variation at clinical and cellular levels

    Clinical Genetics

    A.M.R. Taylor, Z. Lam, J.I. Last and P.J. Byrd

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12453

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  10. Epigenetic changes in diabetes

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 1–10, ST Keating and A El-Osta

    Article first published online : 11 MAR 2013, DOI: 10.1111/cge.12121

  11. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  12. The genetics of type 2 diabetes and its clinical relevance

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 297–306, A Pal and MI McCarthy

    Article first published online : 4 DEC 2012, DOI: 10.1111/cge.12055

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    Retinal optogenetic therapies: clinical criteria for candidacy

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 175–182, S G Jacobson, A Sumaroka, X Luo and A V Cideciyan

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12165

  14. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187

  15. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

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    The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008)

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 87–95, MC van Rij, PAM de Koning Gans, MJ van Belzen, RAC Roos, JPM Geraedts, M De Rademaeker, EK Bijlsma and CEM de Die-Smulders

    Article first published online : 21 MAR 2013, DOI: 10.1111/cge.12089

  17. Novel treatment strategies for schizophrenia from improved understanding of genetic risk

    Clinical Genetics

    B.J. Morris and J.A. Pratt

    Article first published online : 16 SEP 2014, DOI: 10.1111/cge.12485

  18. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Article first published online : 18 OCT 2013, DOI: 10.1111/cge.12276

  19. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

  20. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230