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There are 2899 results for: content related to: Huntington disease and Huntington disease-like in a case series from Brazil

  1. Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis

    Annals of Neurology

    Volume 71, Issue 2, February 2012, Pages: 245–257, Ana I. Seixas, Susan E. Holmes, Hiroshi Takeshima, Amira Pavlovich, Nancy Sachs, Jennifer L. Pruitt, Isabel Silveira, Christopher A. Ross, Russell L. Margolis and Dobrila D. Rudnicki

    Version of Record online : 24 FEB 2012, DOI: 10.1002/ana.22598

  2. Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 168, Issue 7, October 2015, Pages: 573–585, Amanda Krause, Claire Mitchell, Fahmida Essop, Susan Tager, James Temlett, Giovanni Stevanin, Christopher Ross, Dobrila Rudnicki and Russell Margolis

    Version of Record online : 16 JUN 2015, DOI: 10.1002/ajmg.b.32332

  3. Interaction of plasma lipoprotein subfractions with differentiating 3T3-L1 and human mammary preadipocytes in culture

    Journal of Cellular Biochemistry

    Volume 74, Issue 2, 1 August 1999, Pages: 181–193, Lee-Anne Stanton, Maryna van de Venter and Willem Oelofsen

    Version of Record online : 18 JUN 1999, DOI: 10.1002/(SICI)1097-4644(19990801)74:2<181::AID-JCB4>3.0.CO;2-Z

  4. 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

  5. You have free access to this content
    Effect of Obesity on High-density Lipoprotein Metabolism

    Obesity

    Volume 15, Issue 12, December 2007, Pages: 2875–2888, Shirya Rashid and Jacques Genest

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2007.342

  6. 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

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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

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    Distribution of high-density lipoprotein 2 and 3 constituents during in vitro phospholipid hydrolysis

    European Journal of Biochemistry

    Volume 162, Issue 2, January 1987, Pages: 279–286, Bertrand Pierre PERRET, Francois CHOLLET, Suzanne DURAND, Gilles SIMARD, Hugues CHAP and Louis DOUSTE-BLAZY

    Version of Record online : 3 MAR 2005, DOI: 10.1111/j.1432-1033.1987.tb10597.x

  9. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Version of Record online : 5 NOV 2013, DOI: 10.1111/cge.12298

  10. 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

  11. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Version of Record online : 3 OCT 2013, DOI: 10.1111/cge.12269

  12. Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    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

  13. 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

  14. 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

  15. Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 489–494, L. Borgwardt, E.R. Danielsen, C. Thomsen, J.E. Månsson, N. Taouatas, A.M. Thuesen, K.J. Olsen, J. Fogh, C.I. Dali and A.M. Lund

    Version of Record online : 4 SEP 2015, DOI: 10.1111/cge.12642

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    X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    Volume 89, Issue 1, January 2016, Pages: 44–54, L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Version of Record online : 22 JUN 2015, DOI: 10.1111/cge.12613

  17. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    Volume 88, Issue 6, December 2015, Pages: 550–557, A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Version of Record online : 17 FEB 2015, DOI: 10.1111/cge.12550

  18. (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

  19. 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

  20. Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 320–327, T. Vinther-Jensen, T.T. Nielsen, E. Budtz-Jørgensen, I.U. Larsen, M.M. Hansen, L. Hasholt, L.E. Hjermind, J.E. Nielsen and A. Nørremølle

    Version of Record online : 17 JUL 2015, DOI: 10.1111/cge.12628