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There are 26475 results for: content related to: Cardiac characterization of 16 patients with large NF1 gene deletions

  1. 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

  2. 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

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12498

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    Pathogenic variants in non-protein-coding sequences

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 422–428, P Makrythanasis and SE Antonarakis

    Article first published online : 23 SEP 2013, DOI: 10.1111/cge.12272

  4. Phenotype analysis impacts testing strategy in patients with Currarino syndrome

    Clinical Genetics

    G. Cuturilo, J.C. Hodge, C.K. Runke, E.C. Thorland, M.A. Al-Owain, J.W. Ellison and D. Babovic-Vuksanovic

    Article first published online : 15 MAR 2015, DOI: 10.1111/cge.12572

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    Whole-genome copy number variation analysis in anophthalmia and microphthalmia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 473–481, KF Schilter, LM Reis, A Schneider, TM Bardakjian, O Abdul-Rahman, BA Kozel, HH Zimmerman, U Broeckel and EV Semina

    Article first published online : 17 JUN 2013, DOI: 10.1111/cge.12202

  6. Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 353–358, CA Tan, D. del Gaudio, M.A. Dempsey, K. Arndt, S. Botes, A. Reeder and S. Das

    Article first published online : 13 MAY 2013, DOI: 10.1111/cge.12172

  7. Germline BAP1 mutations predispose also to multiple basal cell carcinomas

    Clinical Genetics

    A. de la Fouchardière, O. Cabaret, L. Savin, P. Combemale, H. Schvartz, C. Penet, V. Bonadona, N. Soufir and B. Bressac-de Paillerets

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12472

  8. Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor

    Clinical Genetics

    C. Ejerskov, S. Farholt, F. Skovby, E.M. Vestergaard and A. Haagerup

    Article first published online : 15 MAY 2015, DOI: 10.1111/cge.12600

  9. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 462–466, E Hernández-Imaz, B Campos, FJ Rodríguez-Álvarez, O Abad, G Melean, J Gardenyes, Y Martín and C Hernández-Chico

    Article first published online : 10 SEP 2012, DOI: 10.1111/j.1399-0004.2012.01952.x

  10. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 386–389, E. Trevisson, M. Forzan, L. Salviati and M. Clementi

    Article first published online : 27 MAY 2013, DOI: 10.1111/cge.12177

  11. A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 266–272, M. Kurashige, K. Hanaoka, M. Imamura, T. Udagawa, Y. Kawaguchi, T. Hasegawa, T. Hosoya, T. Yokoo and S. Maeda

    Article first published online : 3 APR 2014, DOI: 10.1111/cge.12372

  12. Depression among adults with neurofibromatosis type 1: prevalence and impact on quality of life

    Clinical Genetics

    J.S. Cohen, H.P. Levy, J. Sloan, J. Dariotis and B.B. Biesecker

    Article first published online : 20 JAN 2015, DOI: 10.1111/cge.12551

  13. Disfluency: it is not always stuttering

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 298–299, M. Cosyns, Y. van Zaalen, G. Mortier, S. Janssens, A. Amez, J. Van Damme and J. Van Borsel

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12144

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    Impact of anthropogenic combustion emissions on the fractional solubility of aerosol iron: Evidence from the Sargasso Sea

    Geochemistry, Geophysics, Geosystems

    Volume 8, Issue 10, October 2007, Peter N. Sedwick, Edward R. Sholkovitz and Thomas M. Church

    Article first published online : 17 OCT 2007, DOI: 10.1029/2007GC001586

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    Geographic Effects on Intergenerational Income Mobility

    Economic Geography

    Volume 91, Issue 1, January 2015, Pages: 83–106, Jonathan T. Rothwell and Douglas S. Massey

    Article first published online : 5 NOV 2014, DOI: 10.1111/ecge.12072

  16. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 554–562, A.S.A. Cohen, S.L. Wilson, J. Trinh and X.C. Ye

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12502

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    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

  18. X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  19. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Article first published online : 23 MAR 2015, DOI: 10.1111/cge.12576

  20. Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    P. Brady, N. Brison, K. Van Den Bogaert, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius and J.R. Vermeesch

    Article first published online : 4 MAY 2015, DOI: 10.1111/cge.12598