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There are 3442 results for: content related to: PLP1 gene analysis in 88 patients with leukodystrophy

  1. 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

  2. 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

  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 genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2

    Clinical Genetics

    M. Elzaiat, A.-L. Todeschini, S. Caburet and R.A. Veitia

    Version of Record online : 29 SEP 2016, DOI: 10.1111/cge.12862

  6. 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

  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. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 267–272, Roberta Biancheri, Serena Grossi, Stefano Regis, Andrea Rossi, Fabio Corsolini, Daniela Paola Rossi, Pietro Cavalli, Mariasavina Severino and Mirella Filocamo

    Version of Record online : 27 MAY 2013, DOI: 10.1111/cge.12154

  15. 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

  16. 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

  17. Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Version of Record online : 13 AUG 2015, DOI: 10.1111/cge.12641

  18. Genetics of human isolated hereditary hair loss disorders

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 203–212, S. Basit, S. Khan and W. Ahmad

    Version of Record online : 22 NOV 2014, DOI: 10.1111/cge.12531

  19. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 13–24, M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

    Version of Record online : 10 NOV 2014, DOI: 10.1111/cge.12517

  20. Cross-border reprogenetic services

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 1–10, V. Couture, R. Drouin, S.-L. Tan, J.-M. Moutquin and C. Bouffard

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12418