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There are 3709 results for: content related to: Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree

  1. 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

  2. Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa

    Clinical Genetics

    Volume 90, Issue 2, August 2016, Pages: 118–126, A.M. Rose and S.S. Bhattacharya

    Version of Record online : 4 MAR 2016, DOI: 10.1111/cge.12758

  3. A review of craniofacial disorders caused by spliceosomal defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 405–415, D. Lehalle, D. Wieczorek, R.M. Zechi-Ceide, M.R. Passos-Bueno, S. Lyonnet, J. Amiel and C.T. Gordon

    Version of Record online : 1 MAY 2015, DOI: 10.1111/cge.12596

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    Alternative splicing and retinal degeneration

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 142–149, M M Liu and D J Zack

    Version of Record online : 5 JUN 2013, DOI: 10.1111/cge.12181

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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

  6. Genetic and epigenetic insights into uveal melanoma

    Clinical Genetics

    A. Sharma, M.M. Stei, H. Fröhlich, F.G. Holz, K.U. Loeffler and M.C. Herwig-Carl

    Version of Record online : 24 JAN 2018, DOI: 10.1111/cge.13136

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    Pharmacogenetics of pain and analgesia

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 321–330, MT Smith and A Muralidharan

    Version of Record online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01936.x

  8. 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

  10. Parents’ attitudes toward genetic testing of children for health conditions: A systematic review

    Clinical Genetics

    Volume 92, Issue 6, December 2017, Pages: 569–578, Q. Lim, B.C. McGill, V.F. Quinn, K.M. Tucker, D. Mizrahi, A.F. Patenaude, M. Warby, R.J. Cohn and C.E. Wakefield

    Version of Record online : 30 MAR 2017, DOI: 10.1111/cge.12989

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    Recent insights on the genetics and epigenetics of endometriosis

    Clinical Genetics

    Volume 91, Issue 2, February 2017, Pages: 254–264, B. Borghese, K.T. Zondervan, M.S. Abrao, C. Chapron and D. Vaiman

    Version of Record online : 30 NOV 2016, DOI: 10.1111/cge.12897

  12. 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

  13. Cardiovascular pharmacogenetics: a promise for genomically-guided therapy and personalized medicine

    Clinical Genetics

    Volume 91, Issue 3, March 2017, Pages: 355–370, M. Zaiou and H. El Amri

    Version of Record online : 30 NOV 2016, DOI: 10.1111/cge.12881

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Version of Record online : 15 APR 2013, DOI: 10.1111/cge.12151

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    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

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

    Clinical Genetics

    Volume 92, Issue 3, September 2017, Pages: 235–242, X. Liu, Z. Han and C. Yang

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

  17. 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

  18. Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Version of Record online : 6 AUG 2013, DOI: 10.1111/cge.12229

  19. 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

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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