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There are 1870 results for: content related to: Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype–genotype study

  1. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  2. 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

  3. You have full text access to this OnlineOpen article
    Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 510–520, D. Cragun, C. Radford, J.S. Dolinsky, M. Caldwell, E. Chao and T. Pal

    Article first published online : 20 MAR 2014, DOI: 10.1111/cge.12359

  4. Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 440–447, S. Costantini, G. Malerba, G. Contreas, M. Corradi, S.P. Marin Vargas, A. Giorgetti and C. Maffeis

    Article first published online : 6 JUN 2014, DOI: 10.1111/cge.12406

  5. 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

  6. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome

    Clinical Genetics

    E. N. Kerr, A. Bhan and E. Héon

    Article first published online : 16 JUN 2015, DOI: 10.1111/cge.12614

  7. Genetic testing for RAD51C mutations: in the clinic and community

    Clinical Genetics

    Volume 88, Issue 4, October 2015, Pages: 303–312, V. Sopik, M.R. Akbari and S.A. Narod

    Article first published online : 7 JAN 2015, DOI: 10.1111/cge.12548

  8. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Article first published online : 5 NOV 2013, DOI: 10.1111/cge.12298

  9. 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

  10. You have free access to this content
    X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 44–54, L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  11. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Article first published online : 17 FEB 2015, DOI: 10.1111/cge.12550

  12. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 255–260, J.-L. Lin, W.-I. Lee, J.-L. Huang, P. K.-T. Chen, K.-C. Chan, L.-J. Lo, Y.-J. You, Y.-F. Shih, T.-Y. Tseng and M.-C. Wu

    Article first published online : 13 OCT 2014, DOI: 10.1111/cge.12484

  13. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Article first published online : 6 AUG 2014, DOI: 10.1111/cge.12437

  14. Cornelia de Lange syndrome

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 1–12, M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

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

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 11–20, J.R. Cook, L. Carta, J. Galatioto and F. Ramirez

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

  16. Translational genomics and head and neck cancer: toward precision medicine

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 412–421, S. Razzouk

    Article first published online : 25 SEP 2014, DOI: 10.1111/cge.12487

  17. 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

  18. Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 233–243, H. Xiong, D. Tan, S. Wang, S. Song, H. Yang, K. Gao, A. Liu, H. Jiao, B. Mao, J. Ding, X. Chang, J. Wang, Y. Wu, Y. Yuan, Y. Jiang, F. Zhang, H. Wu and X. Wu

    Article first published online : 31 MAR 2014, DOI: 10.1111/cge.12366

  19. 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

  20. You have full text access to this OnlineOpen article
    Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations

    Clinical Genetics

    Volume 89, Issue 2, February 2016, Pages: 187–192, A. Haghighi, M. Borhany, A. Ghazi, N. Edwards, A. Tabaksert, A. Haghighi, N. Fatima, T.S. Shamsi and J.A. Sayer

    Article first published online : 15 JUL 2015, DOI: 10.1111/cge.12622