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There are 7308 results for: content related to: Niemann–Pick type C disease: a novel NPC1 mutation segregating in a Greek island

  1. You have free access to this content
    Genes and mutations causing retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 132–141, S P Daiger, L S Sullivan and S J Bowne

    Article first published online : 19 JUN 2013, DOI: 10.1111/cge.12203

  2. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 433–440, A.E. Bochem, J.C. van Capelleveen, G.M. Dallinga-Thie, A.W.M. Schimmel, M.M. Motazacker, I. Tietjen, R.R. Singaraja, M.R. Hayden, J.J.P. Kastelein, E.S.G. Stroes and G.K. Hovingh

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12201

  3. Distributions and habitat associations of the bridled monocle bream Scolopsis bilineatus (Nemipteridae): a demographic approach

    Journal of Fish Biology

    Volume 83, Issue 3, September 2013, Pages: 618–641, A. E. Boaden and M. J. Kingsford

    Article first published online : 2 SEP 2013, DOI: 10.1111/jfb.12200

  4. You have free access to this content
    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

  5. You have full text access to this OnlineOpen article
    Age-related macular degeneration—clinical review and genetics update

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 160–166, R Ratnapriya and E Y Chew

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12206

  6. Combined blue nevus-smooth muscle hamartoma: a series of 12 cases

    Journal of Cutaneous Pathology

    Volume 40, Issue 10, October 2013, Pages: 879–883, Julia Tzu, Chloe Goldman, Ann E. Perry and Shane A. Meehan

    Article first published online : 14 AUG 2013, DOI: 10.1111/cup.12200

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    Pharmacogenetics in Cardiovascular Disease: The Challenge of Moving From Promise to Realization

    Clinical Cardiology

    Volume 37, Issue 1, January 2014, Pages: 48–56, Philip G. Joseph, Guillaume Pare, Stephanie Ross, Robert Roberts and Sonia S. Anand

    Article first published online : 17 SEP 2013, DOI: 10.1002/clc.22200

  8. Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 492–494, N. Patel, M.A. Salih, M.J. Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, E.A. Elgamal, H.Y. Elkhashab, M. Al-Qattan and F.S. Alkuraya

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12205

  9. Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 495–497, M.S. Ellingson, M.J. Wick, W.M. White, K.M. Raymond, A.K. Saenger, P.N. Pichurin, C.A. Wassif, F.D. Porter and D. Babovic-Vuksanovic

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12209

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

    Clinical Genetics

    E Weh, LM Reis, RC Tyler, D Bick, WJ Rhead, S Wallace, TL McGregor, SK Dills, M-C Chao, JC Murray and EV Semina

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

  11. Hereditary inclusion body myopathy in Persian Jews: a case report from Iran

    Clinical Genetics

    M Miryounesi, P Soltanzadeh and MH Modarressi

    Article first published online : 10 JUL 2013, DOI: 10.1111/cge.12220

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    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

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

    Clinical Genetics

    F Ezgu, P Krejci, S Li, C de Sousa, JM Graham Jr, I Hansmann, W He, K Porpora, D Wand, W Wertelecki, A Schneider and WR Wilcox

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

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

    Clinical Genetics

    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. 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

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

    Clinical Genetics

    Y Tsurusaki, N Okamoto, H Ohashi, S Mizuno, N Matsumoto, Y Makita, M Fukuda, B Isidor, J Perrier, S Aggarwal, AB 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

  17. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics

    AJ Brea-Fernández, JM Cameselle-Teijeiro, C Alenda, C Fernández-Rozadilla, J Cubiella, J Clofent, JM Reñé, U Anido, M Milá, F Balaguer, A Castells, S Castellvi-Bel, R Jover, A Carracedo and C Ruiz-Ponte

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12232

  18. Two new species of Leporinus (Characiformes: Anostomidae) from the Brazilian Amazon, and redescription of Leporinus striatus Kner 1858

    Journal of Fish Biology

    Volume 83, Issue 5, November 2013, Pages: 1128–1160, J. L. O. Birindelli and H. A. Britski

    Article first published online : 30 AUG 2013, DOI: 10.1111/jfb.12206

  19. High immunohistochemical nestin expression is associated with greater depth of infiltration in dermatofibrosarcoma protuberans: a study of 71 cases

    Journal of Cutaneous Pathology

    Volume 40, Issue 10, October 2013, Pages: 871–878, Carlos Serra-Guillén, Beatriz Llombart, Eduardo Nagore, Celia Requena, Victor Traves, David Llorca, Sabrina Kindem, Rebeca Alcalá, Carlos Guillén and Onofre Sanmartín

    Article first published online : 21 AUG 2013, DOI: 10.1111/cup.12203

  20. 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