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There are 29415 results for: content related to: Long-term outcome in pyridoxine-dependent epilepsy

  1. You have free access to this content
    Callosal alterations in pyridoxine-dependent epilepsy

    Developmental Medicine & Child Neurology

    Volume 56, Issue 11, November 2014, Pages: 1106–1110, Seth D Friedman, Gisele E Ishak, Sandra L Poliachik, Andrew V Poliakov, Randolph K Otto, Dennis W W Shaw, Michèl A Willemsen, Levinus A Bok and Sidney M Gospe Jr

    Version of Record online : 18 JUN 2014, DOI: 10.1111/dmcn.12511

  2. Mutational spectrum of Smith–Lemli–Opitz syndrome

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 160C, Issue 4, 15 November 2012, Pages: 263–284, Hans R. Waterham and Raoul C.M. Hennekam

    Version of Record online : 5 OCT 2012, DOI: 10.1002/ajmg.c.31346

  3. Genetic and epigenetic alterations of microRNAs and implications for human cancers and other diseases

    Genes, Chromosomes and Cancer

    Volume 55, Issue 3, March 2016, Pages: 193–214, Musaffe Tuna, Andreia S. Machado and George A. Calin

    Version of Record online : 9 DEC 2015, DOI: 10.1002/gcc.22332

  4. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 8–21, Noralane M. Lindor, Lucia Guidugli, Xianshu Wang, Maxime P. Vallée, Alvaro N. A. Monteiro, Sean Tavtigian, David E. Goldgar and Fergus J. Couch

    Version of Record online : 3 NOV 2011, DOI: 10.1002/humu.21627

  5. You have free access to this content
    Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients


    Volume 50, Issue 5, May 2009, Pages: 1167–1175, Craig L. Bennett, Yingzhang Chen, Sihoun Hahn, Ian A. Glass and Sidney M. Gospe Jr

    Version of Record online : 14 OCT 2008, DOI: 10.1111/j.1528-1167.2008.01816.x

  6. Association of polymorphisms and haplotypes of the NBN gene with laryngeal cancer and multiple primary tumors of the head and neck

    Head & Neck

    Volume 34, Issue 3, March 2012, Pages: 376–383, Iwona Ziółkowska–Suchanek, Maria Mosor, Małgorzata Wierzbicka, Marta Fichna, Małgorzata Rydzanicz and Jerzy Nowak

    Version of Record online : 5 APR 2011, DOI: 10.1002/hed.21741

  7. Somatic mutations in the notch, NF-KB, PIK3CA, and hedgehog pathways in human breast cancers

    Genes, Chromosomes and Cancer

    Volume 51, Issue 5, May 2012, Pages: 480–489, Xiang Jiao, Laura D. Wood, Monica Lindman, Sian Jones, Phillip Buckhaults, Kornelia Polyak, Saraswati Sukumar, Hannah Carter, Dewey Kim, Rachel Karchin and Tobias Sjöblom

    Version of Record online : 3 FEB 2012, DOI: 10.1002/gcc.21935

  8. Prenatal diagnosis of xeroderma pigmentosum group A in Japan

    The Journal of Dermatology

    Volume 39, Issue 6, June 2012, Pages: 516–519, Shinichi MORIWAKI, Yoshiki YAMASHITA, Sachiko NAKAMURA, Daisuke FUJITA, Jun KOHYAMA, Masahiro TAKIGAWA and Masahide OHMICHI

    Version of Record online : 14 DEC 2011, DOI: 10.1111/j.1346-8138.2011.01425.x

  9. You have free access to this content
    Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

    Human Mutation

    Volume 33, Issue 1, January 2012, Pages: 42–63, Maria Kousi, Anna-Elina Lehesjoki and Sara E. Mole

    Version of Record online : 16 NOV 2011, DOI: 10.1002/humu.21624

  10. Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 706–713, Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Rob M. Verdijk, Marjolein Kriek, Ben Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg and Anneke J.A. Maat-Kievit

    Version of Record online : 11 MAR 2013, DOI: 10.1002/humu.22292

  11. FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 23–31, Kristiana Gordon, Sarah L. Spiden, Fiona C. Connell, Glen Brice, Sally Cottrell, John Short, Rohan Taylor, Steve Jeffery, Peter S. Mortimer, Sahar Mansour and Pia Ostergaard

    Version of Record online : 16 OCT 2012, DOI: 10.1002/humu.22223

  12. How do we identify RHD variants using a practical molecular approach?


    Volume 54, Issue 4, April 2014, Pages: 962–969, Carine Prisco Arnoni, Flavia Roche Moreira Latini, Janaína Guilhem Muniz, Diana Gazito, Rosangela de Medeiros Person, Tatiane Aparecida de Paula Vendrame, José Augusto Barreto and Lilian Castilho

    Version of Record online : 28 FEB 2014, DOI: 10.1111/trf.12557

  13. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease

    Clinical Genetics

    Volume 73, Issue 5, May 2008, Pages: 441–452, L Gojová, E Jansová, M Külm, S Pouchlá and L Kozák

    Version of Record online : 25 MAR 2008, DOI: 10.1111/j.1399-0004.2008.00989.x

  14. Hereditary urea cycle diseases in Finland

    Acta Paediatrica

    Volume 97, Issue 10, October 2008, Pages: 1412–1419, Päivi Keskinen, Anna Siitonen and Matti Salo

    Version of Record online : 9 JUL 2008, DOI: 10.1111/j.1651-2227.2008.00923.x

  15. Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 443–452, X Wang, W Zhang, H Shi, Z Qiu, Y Meng, F Yao and M Wei

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01680.x

  16. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

    Human Mutation

    Volume 37, Issue 1, January 2016, Pages: 43–51, Jan Lukas, Simone Scalia, Sabrina Eichler, Anne-Marie Pockrandt, Nicole Dehn, Claudia Cozma, Anne-Katrin Giese and Arndt Rolfs

    Version of Record online : 27 OCT 2015, DOI: 10.1002/humu.22910

  17. Variable disease progression after successful stem cell transplantation: Prospective follow-up investigations in eight patients with Hurler syndrome

    Pediatric Transplantation

    Volume 15, Issue 8, December 2011, Pages: 861–869, Lorenz Grigull, Karl-Walter Sykora, Andreas Tenger, Harald Bertram, Max Meyer-Marcotty, Hans Hartmann, Eva Bültmann, Andreas Beilken, Miroslaw Zivicnjak, Martin Mynarek, Alexander W. Osthaus, Reinhard Schilke, Katja Kollewe and Thomas Lücke

    Version of Record online : 23 NOV 2011, DOI: 10.1111/j.1399-3046.2011.01595.x

  18. You have full text access to this OnlineOpen article
    Comparative Analysis and Functional Mapping of SACS Mutations Reveal Novel Insights into Sacsin Repeated Architecture

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 525–537, Alessandro Romano, Alessandra Tessa, Amilcare Barca, Fabiana Fattori, Maria Fulvia de Leva, Alessandra Terracciano, Carlo Storelli, Filippo Maria Santorelli and Tiziano Verri

    Version of Record online : 18 FEB 2013, DOI: 10.1002/humu.22269

  19. Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 259–270, T. Roscioli, G. Elakis, T.C. Cox, D.J. Moon, H. Venselaar, A.M. Turner, T. Le, E. Hackett, E. Haan, A. Colley, D. Mowat, L. Worgan, E.P. Kirk, R. Sachdev, E. Thompson, M. Gabbett, J. McGaughran, K. Gibson, M. Gattas, M-L. Freckmann, J. Dixon, L. Hoefsloot, M. Field, A. Hackett, B. Kamien, M. Edwards, L.C. Adès, F.A. Collins, M.J. Wilson, R. Savarirayan, T.Y. Tan, D.J. Amor, G. McGIllivray, S.M. White, I.A. Glass, D.J. David, P.J. Anderson, M. Gianoutsos and M.F. Buckley

    Version of Record online : 11 OCT 2013, DOI: 10.1002/ajmg.c.31378

  20. You have free access to this content
    Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype–phenotype correlation or age-dependent relationship?

    American Journal of Hematology

    Volume 86, Issue 2, February 2011, Pages: 235–237, Siddharth Banka, Robert Wynn and William G. Newman

    Version of Record online : 21 JAN 2011, DOI: 10.1002/ajh.21930