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There are 10288 results for: content related to: A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11

  1. You have free access to this content
    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

    Version of Record online : 17 JUN 2013, DOI: 10.1111/cge.12202

  2. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

    Clinical Genetics

    Volume 88, Issue 3, September 2015, Pages: 283–287, M. Chograni, F.S. Alkuraya, I. Ourteni, F. Maazoul, I. Lariani and H.B. Chaabouni

    Version of Record online : 30 OCT 2014, DOI: 10.1111/cge.12489

  3. Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 244–250, N Chassaing, N Ragge, A Kariminejad, A Buffet, S Ghaderi-Sohi, J Martinovic and P Calvas

    Version of Record online : 4 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01904.x

  4. Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 381–385, J.J. van der Smagt, A. Vink, J.H. Kirkels, M. Nelen, H. ter Heide, M.M.C. Molenschot, R.A. Weger, P.A.W. Schellekens, J. Hoogendijk and D. Dooijes

    Version of Record online : 13 MAY 2013, DOI: 10.1111/cge.12169

  5. You have free access to this content
    Genetics of human cataract

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 120–127, A Shiels and J F Hejtmancik

    Version of Record online : 9 JUN 2013, DOI: 10.1111/cge.12182

  6. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 127–137, K. Shibbani, A.C. Fahed, L. Al-Shaar, M. Arabi, G. Nemer, F. Bitar and M. Majdalani

    Version of Record online : 12 MAR 2013, DOI: 10.1111/cge.12112

  7. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Version of Record online : 5 APR 2013, DOI: 10.1111/cge.12138

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    Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology

    Clinical Genetics

    Volume 90, Issue 4, October 2016, Pages: 293–304, 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

  9. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 498–499, M. Kehrer, A. Beckmann, J. Wyduba, U. Finckh, A. Dufke, U. Gaiser and A. Tzschach

    Version of Record online : 13 JUN 2013, DOI: 10.1111/cge.12199

  10. You have full text access to this OnlineOpen article
    Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X-linked microcephalic intellectual deficit

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 288–290, F Ariani, F Mari, S Amitrano, C Di Marco, R Artuso, E Scala, I Meloni, R Della Volpe, A Rossi, H van Bokhoven and A Renieri

    Version of Record online : 23 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01901.x

  11. Multiple sensitive periods in human visual development: Evidence from visually deprived children

    Developmental Psychobiology

    Volume 46, Issue 3, April 2005, Pages: 163–183, Terri L. Lewis and Daphne Maurer

    Version of Record online : 16 MAR 2005, DOI: 10.1002/dev.20055

  12. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 468–473, A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Version of Record online : 6 JAN 2015, DOI: 10.1111/cge.12543

  13. Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 430–439, A. Chaussenot, C. Rouzier, M. Quere, M. Plutino, S. Ait-El-Mkadem, S. Bannwarth, M. Barth, H. Dollfus, P. Charles, M. Nicolino, B. Chabrol, B. Vialettes and V. Paquis-Flucklinger

    Version of Record online : 6 AUG 2014, DOI: 10.1111/cge.12437

  14. Molecular and phenotypic characterization of atypical Williams–Beuren syndrome

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 487–491, J. Euteneuer, C.M.B. Carvalho, S. Kulkarni, M. Vineyard, R. Mark Grady, J.R. Lupski and M. Shinawi

    Version of Record online : 18 NOV 2013, DOI: 10.1111/cge.12305

  15. You have full text access to this OnlineOpen article
    Personalized ophthalmology

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 1–11, L.F. Porter and G.C.M. Black

    Version of Record online : 3 JUN 2014, DOI: 10.1111/cge.12389

  16. You have free access to this content
    Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes

    Congenital Anomalies

    Volume 54, Issue 1, February 2014, Pages: 12–21, Yukio Kawahara

    Version of Record online : 25 FEB 2014, DOI: 10.1111/cga.12043

  17. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

    Clinical Genetics

    Z. Fattahi, Z. Kalhor, M. Fadaee, R. Vazehan, E. Parsimehr, A. Abolhassani, M. Beheshtian, G. Zamani, S. Nafissi, Y. Nilipour, M.R. Akbari, K. Kahrizi, A. Kariminejad and H. Najmabadi

    Version of Record online : 21 JUL 2016, DOI: 10.1111/cge.12810

  18. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho–GTPase pathway genes in NF1 tumorigenesis

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 763–776, Meena Upadhyaya, Gill Spurlock, Laura Thomas, Nick S. T. Thomas, Mark Richards, Viktor-Felix Mautner, David N. Cooper, Abhijit Guha and Jim Yan

    Version of Record online : 5 MAR 2012, DOI: 10.1002/humu.22044

  19. You have free access to this content
    Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study

    Arthritis & Rheumatism

    Volume 64, Issue 12, December 2012, Pages: 4104–4113, Shengping Hou, Zhenglin Yang, Liping Du, Zhengxuan Jiang, Qinmeng Shu, Yuanyuan Chen, Fuzhen Li, Qingyun Zhou, Shigeaki Ohno, Rui Chen, Aize Kijlstra, James T. Rosenbaum and Peizeng Yang

    Version of Record online : 28 NOV 2012, DOI: 10.1002/art.37708

  20. Childhood maltreatment, the corticotropin-releasing hormone receptor gene and adult depression in the general population

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 153B, Issue 8, December 2010, Pages: 1483–1493, Hans Jörgen Grabe, Christian Schwahn, Katja Appel, Jessie Mahler, Andrea Schulz, Carsten Spitzer, Kristin Fenske, Sven Barnow, Michael Lucht, Harald Jürgen Freyberger, Ulrich John, Alexander Teumer, Henri Wallaschofski, Matthias Nauck and Henry Völzke

    Version of Record online : 18 OCT 2010, DOI: 10.1002/ajmg.b.31131