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There are 10123 results for: content related to: Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D

  1. Systematic review of the clinical effectiveness of neuromodulation in the treatment of faecal incontinence

    British Journal of Surgery

    Volume 100, Issue 11, October 2013, Pages: 1430–1447, N. N. Thin, E. J. Horrocks, A. Hotouras, S. Palit, M. A. Thaha, C. L. H. Chan, K. E. Matzel and C. H. Knowles

    Article first published online : 4 SEP 2013, DOI: 10.1002/bjs.9226

  2. You have free access to this content
    Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

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

    Article first published online : 6 AUG 2013, DOI: 10.1111/cge.12229

  3. Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 555–561, F.V. Ventura, P. Leandro, A. Luz, I.A. Rivera, M.F.B. Silva, R. Ramos, H. Rocha, A. Lopes, H. Fonseca, A. Gaspar, L. Diogo, E. Martins, E. Leão-Teles, L. Vilarinho and I. Tavares de Almeida

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12227

  4. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225

  5. Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 562–567, S. Shaaban, F. Duzcan, C. Yildirim, W.-M. Chan, C. Andrews, N.A. Akarsu and E.C. Engle

    Article first published online : 18 JUL 2013, DOI: 10.1111/cge.12224

  6. A comparative study of bioactive compounds in primitive wheat populations from Italy, Turkey, Georgia, Bulgaria and Armenia

    Journal of the Science of Food and Agriculture

    Volume 93, Issue 14, November 2013, Pages: 3490–3501, Elisa Giambanelli, Federico Ferioli, Bike Koçaoglu, Marjam Jorjadze, Iordanka Alexieva, Nune Darbinyan and L Filippo D'Antuono

    Article first published online : 27 AUG 2013, DOI: 10.1002/jsfa.6326

  7. How long do louse eggs take to hatch? A possible answer to an age-old riddle

    Medical and Veterinary Entomology

    Volume 28, Issue 2, June 2014, Pages: 119–124, I. F. BURGESS

    Article first published online : 6 NOV 2013, DOI: 10.1111/mve.12026

  8. Latino Fathers' Involvement in Their Children's Schools

    Family Relations

    Volume 62, Issue 4, October 2013, Pages: 662–675, Veronica Terriquez

    Article first published online : 24 AUG 2013, DOI: 10.1111/fare.12026

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    Spanish version of the Investment Model Scale

    Personal Relationships

    Volume 21, Issue 1, March 2014, Pages: 110–124, LAURA E. VANDERDRIFT, CHRISTOPHER R. AGNEW and JUAN E. WILSON

    Article first published online : 24 AUG 2013, DOI: 10.1111/pere.12016

  10. Effects of freezing and thawing on texture, microstructure and cell wall composition changes in papaya tissues

    Journal of the Science of Food and Agriculture

    Volume 94, Issue 2, 30 January 2014, Pages: 189–196, Suphatta Phothiset and Sanguansri Charoenrein

    Article first published online : 24 JUN 2013, DOI: 10.1002/jsfa.6226

  11. Hereditary inclusion body myopathy in Persian Jews: a case report from Iran

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 595–597, M. Miryounesi, P. Soltanzadeh and M.H. Modarressi

    Article first published online : 10 JUL 2013, DOI: 10.1111/cge.12220

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    Age-related macular degeneration—clinical review and genetics update

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 160–166, R Ratnapriya and E Y Chew

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12206

  13. Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 185–189, A.M. Burton-Chase, S.R. Hovick, C.C. Sun, S. Boyd-Rogers, P.M. Lynch, K.H. Lu and S.K. Peterson

    Article first published online : 27 AUG 2013, DOI: 10.1111/cge.12246

  14. Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 72–75, CF Singer, D Muhr, C Rappaport, M-K Tea, D Gschwantler-Kaulich, A Fink-Retter, G Pfeiler, A Berger, P Sun and SA Narod

    Article first published online : 16 JUL 2013, DOI: 10.1111/cge.12216

  15. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 482–486, S. Malik, S. Ullah, M. Afzal, K. Lal and S. Haque

    Article first published online : 5 JUL 2013, DOI: 10.1111/cge.12217

  16. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  17. Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 433–440, A.E. Bochem, J.C. van Capelleveen, G.M. Dallinga-Thie, A.W.M. Schimmel, M.M. Motazacker, I. Tietjen, R.R. Singaraja, M.R. Hayden, J.J.P. Kastelein, E.S.G. Stroes and G.K. Hovingh

    Article first published online : 24 JUN 2013, DOI: 10.1111/cge.12201

  18. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 142–148, E. Weh, L.M. Reis, R.C. Tyler, D. Bick, W.J. Rhead, S. Wallace, T.L. McGregor, S.K. Dills, M.-C. Chao, J.C. Murray and E.V. Semina

    Article first published online : 17 SEP 2013, DOI: 10.1111/cge.12241

  19. Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 464–469, F. Petit, A.-S. Jourdain, J. Andrieux, G. Baujat, C. Baumann, C. Beneteau, A. David, L. Faivre, D. Gaillard, B. Gilbert-Dussardier, P.-S. Jouk, C. Le Caignec, P. Loget, L. Pasquier, N. Porchet, M. Holder-Espinasse, S. Manouvrier-Hanu and F. Escande

    Article first published online : 15 JUL 2013, DOI: 10.1111/cge.12219

  20. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 583–588, A.J. Brea-Fernández, J.M. Cameselle-Teijeiro, C. Alenda, C. Fernández-Rozadilla, J. Cubiella, J. Clofent, J.M. Reñé, U. Anido, M. Milá, F. Balaguer, A. Castells, S. Castellvi-Bel, R. Jover, A. Carracedo and C. Ruiz-Ponte

    Article first published online : 28 JUL 2013, DOI: 10.1111/cge.12232