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There are 6212 results for: content related to: Skirting the pitfalls: a clear-cut nomenclature for H3K4 methyltransferases

  1. 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

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    Genetics of primary ovarian insufficiency

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 183–198, R. Rossetti, I. Ferrari, M. Bonomi and L. Persani

    Version of Record online : 12 DEC 2016, DOI: 10.1111/cge.12921

  3. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes

    Clinical Genetics

    C. Lintas and A.M. Persico

    Version of Record online : 1 MAR 2017, DOI: 10.1111/cge.12983

  4. 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

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    Genetic abnormalities leading to qualitative defects of sperm morphology or function

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 217–232, P.F. Ray, A. Toure, C. Metzler-Guillemain, M.J. Mitchell, C. Arnoult and C. Coutton

    Version of Record online : 9 DEC 2016, DOI: 10.1111/cge.12905

  6. 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

  7. Associations of microRNA single nucleotide polymorphisms and disease risk and pathophysiology

    Clinical Genetics

    X. Liu, Z. Han and C. Yang

    Version of Record online : 19 MAR 2017, DOI: 10.1111/cge.12950

  8. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 539–545, P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

    Version of Record online : 26 APR 2013, DOI: 10.1111/cge.12081

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

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 173–182, M. Elzaiat, A.-L. Todeschini, S. Caburet and R.A. Veitia

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

  10. 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

  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. 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

    Version of Record online : 13 OCT 2014, DOI: 10.1111/cge.12484

  14. 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

  15. 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

  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

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

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 233–246, L. Fontana, B. Gentilin, L. Fedele, C. Gervasini and M. Miozzo

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

  18. 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

  19. 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

  20. 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