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There are 2101 results for: content related to: Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

  1. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

    Clinical Genetics

    A.M. Willis, S.K. Smith, B. Meiser, M.L. Ballinger, D.M. Thomas and M.-A. Young

    Version of Record online : 23 OCT 2016, DOI: 10.1111/cge.12868

  2. Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

    Clinical Genetics

    L. Fontana, B. Gentilin, L. Fedele, C. Gervasini and M. Miozzo

    Version of Record online : 16 NOV 2016, DOI: 10.1111/cge.12883

  3. Recognizing the tenascin-X deficient type of Ehlers–Danlos syndrome: a cross-sectional study in 17 patients

    Clinical Genetics

    S. Demirdas, E. Dulfer, L. Robert, M. Kempers, D. van Beek, D. Micha, B.G. van Engelen, B. Hamel, J. Schalkwijk, B. Loeys, A. Maugeri and N.C. Voermans

    Version of Record online : 4 NOV 2016, DOI: 10.1111/cge.12853

  4. Myhre syndrome

    Clinical Genetics

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

    Version of Record online : 2 APR 2014, DOI: 10.1111/cge.12365

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

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 426–433, E. N. Kerr, A. Bhan and E. Héon

    Version of Record online : 16 JUN 2015, DOI: 10.1111/cge.12614

  6. 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

    Version of Record online : 7 JAN 2015, DOI: 10.1111/cge.12548

  7. Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta-analysis

    Clinical Genetics

    X. Shi, X. Xie, Y. Jia and S. Li

    Version of Record online : 30 NOV 2016, DOI: 10.1111/cge.12910

  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

    Version of Record online : 5 NOV 2013, DOI: 10.1111/cge.12298

  9. 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

    Version of Record online : 9 DEC 2014, DOI: 10.1111/cge.12529

  10. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810

  11. Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

    Clinical Genetics

    C. Paludan-Müller, G. Ahlberg, J. Ghouse, C. Herfelt, J.H. Svendsen, S. Haunsø, J.K. Kanters and M.S. Olesen

    Version of Record online : 26 SEP 2016, DOI: 10.1111/cge.12847

  12. 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

    Version of Record online : 20 MAR 2014, DOI: 10.1111/cge.12359

  13. Association of a type 2 diabetes genetic risk score with insulin secretion modulated by insulin sensitivity among Chinese Hans

    Clinical Genetics

    X. Kong, X. Xing, J. Hong, X. Zhang and W. Yang

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12817

  14. 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

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12406

  15. 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

    Version of Record online : 28 FEB 2014, DOI: 10.1111/cge.12343

  16. 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

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12191

  17. 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

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  18. You have free access to this content
    Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 293–304, A. Charzewska, J. Wierzba, E. Iżycka-Świeszewska, M. Bekiesińska-Figatowska, M. Jurek, A. Gintowt, A. Kłosowska, J. Bal and D. Hoffman-Zacharska

    Version of Record online : 17 JUN 2016, DOI: 10.1111/cge.12811

  19. Spinocerebellar ataxia: relationship between phenotype and genotype – a review

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 305–314, Y.-M. Sun, C. Lu and Z.-Y. Wu

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12808

  20. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2

    Clinical Genetics

    G.C. Dworschak, C. Crétolle, A. Hilger, H. Engels, E. Korsch, H. Reutter and M. Ludwig

    Version of Record online : 10 OCT 2016, DOI: 10.1111/cge.12848