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There are 5861473 results for: content related to: Bernarda Strauss, MD , 1964–2013: a remembrance

  1. 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

    Version of Record online : 10 JUL 2014, DOI: 10.1111/cge.12436

  2. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 401–410, M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12498

  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

    Version of Record 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

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

  5. Cleidocranial dysplasia and RUNX2-clinical phenotype–genotype correlation

    Clinical Genetics

    A. Jaruga, E. Hordyjewska, G. Kandzierski and P. Tylzanowski

    Version of Record online : 30 JUN 2016, DOI: 10.1111/cge.12812

  6. 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

  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

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

  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

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

  9. Polydactyly: phenotypes, genetics and classification

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 203–212, S. Malik

    Version of Record online : 18 OCT 2013, DOI: 10.1111/cge.12276

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

    Clinical Genetics

    Y.-M. Sun, C. Lu and Z.-Y. Wu

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

  11. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 416–425, J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12631

  12. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 403–415, A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Version of Record online : 30 JUL 2015, DOI: 10.1111/cge.12635

  13. IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 28–34, E.J. Leslie, D.C. Koboldt, C.J. Kang, L. Ma, J.T. Hecht, G.L. Wehby, K. Christensen, A.E. Czeizel, F.W.-B. Deleyiannis, R.S. Fulton, R.K. Wilson, T.H. Beaty, B.C. Schutte, J.C. Murray and M.L. Marazita

    Version of Record online : 1 OCT 2015, DOI: 10.1111/cge.12675

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

    Clinical Genetics

    Volume 87, Issue 2, February 2015, Pages: 109–116, G. Velvin, T. Bathen, S. Rand-Hendriksen and A.Ø. Geirdal

    Version of Record online : 4 JUN 2014, DOI: 10.1111/cge.12422

  15. The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 474–478, Z. Levi, R. Kariv, I. Barnes-Kedar, Y. Goldberg, E. Half, S. Morgentern, B. Eli, H.N. Baris, A. Vilkin, R.G. Belfer, Y. Niv, R. Elhasid, R. Dvir, N. Abu-Freha and S. Cohen

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12518

  16. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Version of Record online : 18 NOV 2013, DOI: 10.1111/cge.12301

  17. 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

  18. 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

    Version of Record online : 28 OCT 2014, DOI: 10.1111/cge.12499

  19. You have full text access to this OnlineOpen article
    Funding considerations for the disclosure of genetic incidental findings in biobank research

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 397–406, L Black, D Avard, MH Zawati, BM Knoppers, J Hébert, G Sauvageau and on behalf of the Leucegene Project

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12190

  20. Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 285–294, K. Rai, R. Pilarski, C.M. Cebulla and M.H. Abdel-Rahman

    Version of Record online : 14 JUL 2015, DOI: 10.1111/cge.12630