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There are 41895 results for: content related to: Novel missense mutations of WNK1 in patients with hypokalemic salt-losing tubulopathies

  1. Innovative personalized medicine in gastric cancer: time to move forward

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 37–43, J. Lee, K.-M. Kim, W.K. Kang and S.-H.I. Ou

    Article first published online : 10 MAY 2014, DOI: 10.1111/cge.12408

  2. Dural ectasia in Loeys–Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation

    Clinical Genetics

    S. Sheikhzadeh, L. Brockstaedt, C.R. Habermann, C. Sondermann, P. Bannas, T.S. Mir, A. Staebler, H. Seidel, B. Keyser, M. Arslan-Kirchner, K. Kutsche, J. Berger, S. Blankenberg and Y. von Kodolitsch

    Article first published online : 17 DEC 2013, DOI: 10.1111/cge.12308

  3. The Fight Against Disease: Malaria and Economic Development in Italian Regions

    Economic Geography

    Volume 89, Issue 2, April 2013, Pages: 105–125, Marco Percoco

    Article first published online : 1 MAR 2013, DOI: 10.1111/ecge.12008

  4. Proteus syndrome review: molecular, clinical, and pathologic features

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 111–119, M. Michael Cohen Jr.

    Article first published online : 23 OCT 2013, DOI: 10.1111/cge.12266

  5. Organic Geochemistry of the Cenomanian–Turonian Bahloul Formation Petroleum Source Rock, Central and Northern Tunisia

    Resource Geology

    Volume 63, Issue 3, July 2013, Pages: 262–287, Hassene Affouri, Mabrouk Montacer and Jean-Robert Disnar

    Article first published online : 21 JUN 2013, DOI: 10.1111/rge.12008

  6. Making headway with genetic diagnostics of intellectual disabilities

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 101–110, M.H. Willemsen and T. Kleefstra

    Article first published online : 25 AUG 2013, DOI: 10.1111/cge.12244

  7. Primary care physicians' knowledge of and experience with pharmacogenetic testing

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 388–394, SB Haga, W Burke, GS Ginsburg, R Mills and R Agans

    Article first published online : 3 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01908.x

  8. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 446–451, C. Baquero-Montoya, M.C. Gil-Rodríguez, M.E. Teresa-Rodrigo, M. Hernández-Marcos, G. Bueno-Lozano, I. Bueno-Martínez, S. Remeseiro, R. Fernández-Hernández, M. Bassecourt-Serra, M. Rodríguez de Alba, E. Queralt, A. Losada, B. Puisac, F.J. Ramos and J. Pié

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12194

  9. Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 500–501, M.R. Moya-Quiles, M.V. Bernardo-Pisa, A. Menasalvas, S. Alfayate, J.L. Fuster, F. Boix, G. Salgado, M. Muro, A. Minguela, M.R. Álvarez-López and A.M. García-Alonso

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12208

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    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

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173

  11. Human facial dysostoses

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 499–510, D Wieczorek

    Article first published online : 8 APR 2013, DOI: 10.1111/cge.12123

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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

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

  13. Ataxia telangiectasia: more variation at clinical and cellular levels

    Clinical Genetics

    A.M.R. Taylor, Z. Lam, J.I. Last and P.J. Byrd

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12453

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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

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  15. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 220–228, I. Filges, E. Nosova, E. Bruder, S. Tercanli, K. Townsend, W.T. Gibson, B. Röthlisberger, K. Heinimann, J.G. Hall, C.Y. Gregory-Evans, W.W. Wasserman, P. Miny and J.M. Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301

  16. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056

  17. Epigenetic changes in diabetes

    Clinical Genetics

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

    Article first published online : 11 MAR 2013, DOI: 10.1111/cge.12121

  18. Epigenetic mechanisms in the pathogenesis of Lynch syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 403–412, P. Peltomäki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12349

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    Retinal optogenetic therapies: clinical criteria for candidacy

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 175–182, S G Jacobson, A Sumaroka, X Luo and A V Cideciyan

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12165

  20. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187