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There are 4082 results for: content related to: Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms

  1. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    Volume 90, Issue 1, July 2016, Pages: 3–15, S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Version of Record online : 9 FEB 2016, DOI: 10.1111/cge.12737

  2. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 507–521, P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

    Version of Record online : 18 MAR 2013, DOI: 10.1111/cge.12094

  3. Prenatal diagnosis of congenital myopathies and muscular dystrophies

    Clinical Genetics

    Volume 90, Issue 3, September 2016, Pages: 199–210, D. Massalska, J.G. Zimowski, J. Bijok, A. Kucińska-Chahwan, A. Łusakowska, G. Jakiel and T. Roszkowski

    Version of Record online : 2 JUN 2016, DOI: 10.1111/cge.12801

  4. 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

  5. The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Version of Record online : 27 JUN 2013, DOI: 10.1111/cge.12173

  6. 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

  7. 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

  8. (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

  9. 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

  10. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 507–515, A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Version of Record online : 23 MAR 2015, DOI: 10.1111/cge.12576

  11. Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 523–530, P. Brady, N. Brison, K. Van Den Bogaert, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius and J.R. Vermeesch

    Version of Record online : 4 MAY 2015, DOI: 10.1111/cge.12598

  12. 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

  13. You have full text access to this OnlineOpen article
    The emerging era of pharmacogenomics: current successes, future potential, and challenges

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 21–28, J.W. Lee, F. Aminkeng, A.P. Bhavsar, K. Shaw, B.C. Carleton, M.R. Hayden and C.J.D. Ross

    Version of Record online : 9 MAY 2014, DOI: 10.1111/cge.12392

  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

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

  15. 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

  16. Epigenetic changes in diabetes

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 1–10, ST Keating and A El-Osta

    Version of Record online : 11 MAR 2013, DOI: 10.1111/cge.12121

  17. Unmasking Kabuki syndrome

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 201–211, N Bögershausen and B Wollnik

    Version of Record online : 26 NOV 2012, DOI: 10.1111/cge.12051

  18. 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

  19. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Clinical Genetics

    Volume 89, Issue 6, June 2016, Pages: 659–668, C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quelin, L. Akloul, H. Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, S. Odent, V. Dupé and V. David

    Version of Record online : 16 FEB 2016, DOI: 10.1111/cge.12722

  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