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There are 9270 results for: content related to: Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT

  1. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12188

  2. 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

  3. A family with two female siblings with compound heterozygous FMR1 premutation alleles

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 458–463, K. Basuta, R. Lozano, A. Schneider, C.M. Yrigollen, D. Hessl, R.J. Hagerman and F. Tassone

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12218

  4. You have free access to this content
    Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Article first published online : 6 AUG 2013, DOI: 10.1111/cge.12229

  5. You have free access to this content
    Genetics of human cataract

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 120–127, A Shiels and J F Hejtmancik

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12182

  6. Prevalence of restless legs syndrome and sleep quality in carriers of the fragile X premutation

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 181–184, S.M. Summers, J. Cogswell, J.E. Goodrich, Y. Mu, D.V. Nguyen, S.D. Brass and R.J. Hagerman

    Article first published online : 2 SEP 2013, DOI: 10.1111/cge.12249

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    Alternative splicing and retinal degeneration

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 142–149, M M Liu and D J Zack

    Article first published online : 5 JUN 2013, DOI: 10.1111/cge.12181

  8. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Article first published online : 15 JUL 2013, DOI: 10.1111/cge.12219

  9. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225

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    Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 473–481, KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12202

  11. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 446–451, C. Baquero-Montoya, M.C. Gil-Rodríguez, M.E. Teresa-Rodrigo, M. Hernández-Marcos, G. Bueno-Lozano, I. Bueno-Martínez, S. Remeseiro, R. Fernández-Hernández, M. Bassecourt-Serra, M. Rodríguez de Alba, E. Queralt, A. Losada, B. Puisac, F.J. Ramos and J. Pié

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12194

  12. 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

  13. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

  14. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12227

  15. 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

  16. Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 393–395, S. Donkervoort, J. Dastgir, Y. Hu, W.M. Zein, H. Marks, C. Blackstone and C.G. Bönnemann

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12185

  17. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

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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

  19. Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 441–445, J.-H. Jang, K. Lee, E.-H. Cho, E.-H. Lee, J.-W. Kim and C.-S. Ki

    Article first published online : 13 JUN 2013, DOI: 10.1111/cge.12195

  20. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 562–567, S. Shaaban, F. Duzcan, C. Yildirim, W.-M. Chan, C. Andrews, N.A. Akarsu and E.C. Engle

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12224