Search Results

There are 1208 results for: content related to: Hereditary inclusion body myopathy in Persian Jews: a case report from Iran

  1. A novel mutation of the leptin gene in an Indian patient

    Clinical Genetics

    S Thakur, A Kumar, S Dubey, R Saxena, ANC Peters and A Singhal

    Article first published online : 5 DEC 2013, DOI: 10.1111/cge.12289

  2. Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng and X.-H. Wan

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12341

  3. Innovative personalized medicine in gastric cancer: time to move forward

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 37–43, J. Lee, K.-M. Kim, W.K. Kang and S.-H.I. Ou

    Article first published online : 10 MAY 2014, DOI: 10.1111/cge.12408

  4. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot–Marie–Tooth disease 2A patients

    Clinical Genetics

    B.-O. Choi, K. Nakhro, H.J. Park, Y.S. Hyun, J.H. Lee, S. Kanwal, S.-C. Jung and K.W. Chung

    Article first published online : 18 JUN 2014, DOI: 10.1111/cge.12432

  5. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

    Clinical Genetics

    J.W. Yun, K.I. Jo, H.I. Woo, S.-Y. Lee, C.-S. Ki, J.-W. Kim, J. Song, D.H. Lee, Y.-W. Lee and H.-D. Park

    Article first published online : 21 FEB 2014, DOI: 10.1111/cge.12350

  6. 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

  7. 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

  8. You have free access to this content
    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

  9. 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

  10. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  11. Systematic review of the psychosocial aspects of living with Marfan syndrome

    Clinical Genetics

    G. Velvin, T. Bathen, S. Rand-Hendriksen and A.Ø. Geirdal

    Article first published online : 4 JUN 2014, DOI: 10.1111/cge.12422

  12. Epigenetic mechanisms in the pathogenesis of Lynch syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 403–412, P. Peltomäki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12349

  13. 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

  14. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    J.-J. Braun, V. Noblet, M. Durand, S. Scheidecker, A. Zinetti-Bertschy, J. Foucher, V. Marion, J. Muller, S. Riehm, H. Dollfus and S. Kremer

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  15. Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes

    Clinical Genetics

    J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

    Article first published online : 10 JUL 2014, DOI: 10.1111/cge.12436

  16. Cross-border reprogenetic services: a narrative overview and thematic analysis of the literature

    Clinical Genetics

    V. Couture, R. Drouin, S.-L. Tan, J.-M. Moutquin and C. Bouffard

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12418

  17. Pharmacogenetics of beta2 adrenergic receptor agonists in asthma management

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 12–20, V. E. Ortega

    Article first published online : 7 APR 2014, DOI: 10.1111/cge.12377

  18. Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 112–120, D.W. Shin, J. Cho, D.L. Roter, S.Y. Kim, Ji.H. Park, B. Cho, H.-S. Eom, J.-S. Chung, H.-K. Yang and Jo.-H. Park

    Article first published online : 28 FEB 2014, DOI: 10.1111/cge.12343

  19. Myhre syndrome

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 503–513, C. Le Goff, C. Michot and V. Cormier-Daire

    Article first published online : 2 APR 2014, DOI: 10.1111/cge.12365

  20. 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