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There are 12084 results for: content related to: Somatic mosaicism in a mother of two children with Pitt–Hopkins syndrome

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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

  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. 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

  4. 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

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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. 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

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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

  8. 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

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    Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 341–350, Y Indo

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01943.x

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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

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    Personalized gene silencing therapeutics for Huntington disease

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 29–36, C. Kay, N.H. Skotte, A.L. Southwell and M.R. Hayden

    Article first published online : 11 APR 2014, DOI: 10.1111/cge.12385

  12. You have full text access to this OnlineOpen article
    Personalized ophthalmology

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 1–11, L.F. Porter and G.C.M. Black

    Article first published online : 3 JUN 2014, DOI: 10.1111/cge.12389

  13. De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    Clinical Genetics

    M. Roifman, C.L.M. Marcelis, T. Paton, C. Marshall, R. Silver, J.L. Lohr, H.G. Yntema, H. Venselaar, H. Kayserili, B. van Bon, G. Seaward, FORGE Canada Consortium, H.G. Brunner and D. Chitayat

    Article first published online : 24 MAY 2014, DOI: 10.1111/cge.12401

  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. 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

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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

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    Drosophila as a tool for studying the conserved genetics of pain

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 359–366, G Milinkeviciute, C Gentile and G Gregory Neely

    Article first published online : 22 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01941.x

  18. You have full text access to this OnlineOpen article
    Genetic variation in MKL2 and decreased downstream PCTAIRE1 expression in extreme, fatal primary human microcephaly

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 423–432, E.I. Ramos, G.A. Bien-Willner, J. Li, A.E.O. Hughes, J. Giacalone, S. Chasnoff, S. Kulkarni, M. Parmacek, F.S. Cole and T.E. Druley

    Article first published online : 18 JUN 2013, DOI: 10.1111/cge.12197

  19. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 321–331, KA Hodgkinson, SP Connors, N Merner, A Haywood, T-L Young, WJ McKenna, B Gallagher, F Curtis, AS Bassett and PS Parfrey

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01919.x

  20. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 232–237, SA Narod, JRK Moody, B Rosen, I Fan, A Risch, P Sun and JR McLaughlin

    Article first published online : 3 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01906.x