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There are 13938 results for: content related to: Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development

  1. 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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    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

  3. 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

  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

  5. Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing

    Clinical Genetics

    D.L. Boeldt, N.J. Schork, E.J. Topol and C.S. Bloss

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12419

  6. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 482–486, S. Malik, S. Ullah, M. Afzal, K. Lal and S. Haque

    Article first published online : 5 JUL 2013, DOI: 10.1111/cge.12217

  7. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease

    Clinical Genetics

    M. Kurashige, K. Hanaoka, M. Imamura, T. Udagawa, Y. Kawaguchi, T. Hasegawa, T. Hosoya, T. Yokoo and S. Maeda

    Article first published online : 3 APR 2014, DOI: 10.1111/cge.12372

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    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

  9. 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

  10. 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

  11. 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

  12. Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation

    Clinical Genetics

    M.D. Bashyam, A.K. Chaudhary, M. Kiran, V. Reddy, H.A. Nagarajaram, A. Dalal, L. Bashyam, D. Suri, A. Gupta, N. Gupta, M. Kabra, R.D. Puri, R. RamaDevi, S. Kapoor and S. Danda

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12316

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    Twin studies of pain

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 331–340, CS Nielsen, GP Knudsen and ÓA Steingrímsdóttir

    Article first published online : 13 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01938.x

  14. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  15. Comprehensive analysis of dural ectasia in 150 patients with a causative FBN1 mutation

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 238–245, S. Sheikhzadeh, C. Sondermann, M. Rybczynski, C.R. Habermann, L. Brockstaedt, B. Keyser, H. Kaemmerer, T. Mir, A. Staebler, P.N. Robinson, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12264

  16. A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    Clinical Genetics

    R.M. Patel, S.C.S. Nagamani, D. Cuthbertson, P.M. Campeau, J.P. Krischer, J.R. Shapiro, R.D. Steiner, P.A. Smith, M.B. Bober, P.H. Byers, M. Pepin, M. Durigova, F.H. Glorieux, F. Rauch, B.H. Lee, T. Hart and V.R. Sutton

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12409

  17. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

    Clinical Genetics

    B. Deml, L.M. Reis, M. Maheshwari, C. Griffis, D. Bick and E.V. Semina

    Article first published online : 12 APR 2014, DOI: 10.1111/cge.12379

  18. Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 270–275, H.J. Lee, J. Jung, J.W. Shin, M.H. Song, S.H. Kim, J.-H. Lee, K.-A. Lee, S. Shin, U.-K. Kim, J. Bok, K.-Y. Lee, J.Y. Choi and H.J. Park

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12273

  19. 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

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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