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There are 7947028 results for: content related to: Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort

  1. A mir-153 binding site variation in SNCA in a patient with Parkinson's disease

    Movement Disorders

    Volume 28, Issue 12, October 2013, Pages: 1755–1756, Han-Joon Kim, Gibeom Park, Beom S. Jeon, Woong Yang Park and Young Eun Kim

    Version of Record online : 14 MAY 2013, DOI: 10.1002/mds.25505

  2. No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia

    Movement Disorders

    Volume 26, Issue 11, September 2011, Pages: 2136–2137, Christoph Kamm, Nils Uflacker, Friedrich Asmus, Christoph Schrader, Alexander Wolters, Matthias Wittstock, Jens Pahnke, Thomas Gasser, Jens Volkmann, Alexander Münchau, Johann Hagenah, Reiner Benecke, Christine Klein and Katja Lohmann

    Version of Record online : 2 JUN 2011, DOI: 10.1002/mds.23777

  3. Neurological Wilson's disease lethal for the son, asymptomatic in the father

    Movement Disorders

    Volume 28, Issue 3, March 2013, Pages: 402–403, Yves Denoyer, France Woimant, Muriel Bost, Gilles Edan and Sophie Drapier

    Version of Record online : 6 FEB 2013, DOI: 10.1002/mds.25290

  4. Application of variant-calling algorithms for Mendelian disorders: lessons from whole-exome sequencing in Charcot–Marie–Tooth disease

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 298–299, Y.B. Hong, J. Jung, S.-C. Jung, K.W. Chung and B.-O. Choi

    Version of Record online : 17 OCT 2013, DOI: 10.1111/cge.12281

  5. You have free access to this content
    Development of a rapid multiplex PCR assay for identification of the three common Hemoglobin-Lepore variants (Boston-Washington, Baltimore, and Hollandia) and identification of a new Lepore variant

    American Journal of Hematology

    Volume 87, Issue 10, October 2012, Pages: E74–E75, Roberto H. Nussenzveig, Derek L. Vanhille, Dottie Hussey and Archana M. Agarwal

    Version of Record online : 1 AUG 2012, DOI: 10.1002/ajh.23304

  6. THAP1 mutations are infrequent in spasmodic dysphonia

    Movement Disorders

    Volume 26, Issue 10, 15 August 2011, Pages: 1952–1954, Justus L. Groen, Eren Yildirim, Katja Ritz, Frank Baas, Jacobus J. van Hilten, Freerk W. van der Meulen, Ton P. Langeveld and Marina A.J. Tijssen

    Version of Record online : 29 APR 2011, DOI: 10.1002/mds.23682

  7. COQ2 gene variants associate with cerebellar subtype of multiple system atrophy in Chinese

    Movement Disorders

    Volume 30, Issue 3, March 2015, Pages: 436–437, Chin-Hsien Lin, Eng-King Tan, Chih-Chao Yang, Zhao Yi and Ruey-Meei Wu

    Version of Record online : 16 JAN 2015, DOI: 10.1002/mds.26138

  8. AXIN2 germline mutations are rare in familial melanoma

    Genes, Chromosomes and Cancer

    Volume 50, Issue 5, May 2011, Pages: 370–373, Lucia Pedace, Daniele Castiglia, Paola De Simone, Marco Castori, Naomi De Luca, Ada Amantea, Francesco Binni, Silvia Majore, Angela Maria Cozzolino, Carmelilia De Bernardo, Giovanna Zambruno, Caterina Catricalà and Paola Grammatico

    Version of Record online : 3 FEB 2011, DOI: 10.1002/gcc.20855

  9. No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay

    Genes, Chromosomes and Cancer

    Volume 53, Issue 9, September 2014, Pages: 798–801, Lucie Grodecká, Michal Kramárek, Pavla Lockerová, Tatiana Kováčová, Barbora Ravčuková, Radmila Richterová, Kateřina Kyselová, Eva Augste and Tomáš Freiberger

    Version of Record online : 12 MAY 2014, DOI: 10.1002/gcc.22186

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    cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 505–506, MW Wong-Brown, ML McPhillips, M Hipwell, G Pecenpetelovska, S Dooley, C Meldrum and RJ Scott

    Version of Record online : 20 DEC 2012, DOI: 10.1111/cge.12052

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    Critical-weight-range marsupials in northern Australia are declining: a commentary on Fisher et al. (2014) ‘The current decline of tropical marsupials in Australia: is history repeating?’

    Global Ecology and Biogeography

    Volume 24, Issue 1, January 2015, Pages: 118–122, J. C. Z. Woinarski

    Version of Record online : 24 MAR 2014, DOI: 10.1111/geb.12165

  12. Other thoughts on human variation

    Clinical Anatomy

    Volume 24, Issue 8, November 2011, Pages: 946–947, Arthur F. Dalley II

    Version of Record online : 4 OCT 2011, DOI: 10.1002/ca.21282

  13. Diagnosis of pseudopapillary variant of medullary thyroid carcinoma by fine-needle aspiration cytology

    Diagnostic Cytopathology

    Volume 42, Issue 9, September 2014, Pages: 823–826, Namiki Kawanishi, Yoshiaki Norimatsu, Hiroyuki Ohsaki, Tsutomu Yuminamochi, Ryohei Katoh, Ken Okusaki, Yukio Sato and Tadao K. Kobayashi

    Version of Record online : 27 JUL 2013, DOI: 10.1002/dc.23020

  14. Preoperative cytologic diagnosis of papillary thyroid carcinoma with mixed columnar cell and tall cell features

    Diagnostic Cytopathology

    Volume 40, Issue S1, May 2012, Pages: E4–E7, Paul Tranchida, Edward Bernacki, Harish Budev and Tamar Giorgadze

    Version of Record online : 6 JAN 2011, DOI: 10.1002/dc.21616

  15. Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

    Movement Disorders

    Volume 27, Issue 7, June 2012, Page: 917, Vinko Palada, Sandra Stiern, Nicola Glöckle, Pilar Gómez-Garre, Fatima Carrillo, Pablo Mir, Krzysztof Szczaluba, Michele Tinazzi, Domenico Ajena, Marta Romani, Enza Maria Valente, Ulrich Müller, Peter Bauer, Olaf Riess, Thomas Ott and Kathrin Grundmann

    Version of Record online : 16 APR 2012, DOI: 10.1002/mds.24974

  16. Letter to the Editor: The mathematical soundness and the physical content of the subsystem variational procedure of the QTAIM

    International Journal of Quantum Chemistry

    Volume 111, Issue 15, December 2011, Pages: 4497–4500, Shant Shahbazian

    Version of Record online : 18 JAN 2011, DOI: 10.1002/qua.22977

  17. Temporal processing of perceived body movement in cervical dystonia

    Movement Disorders

    Volume 30, Issue 7, June 2015, Pages: 1005–1007, Davide Martino, Giovanna Lagravinese, Elisa Pelosin, Ray Kallol Chaudhuri, Carmelo M. Vicario, Giovanni Abbruzzese and Laura Avanzino

    Version of Record online : 16 APR 2015, DOI: 10.1002/mds.26225

  18. Germline transmission of LNKE208Q variant in a family with myeloproliferative neoplasms

    American Journal of Hematology

    Volume 91, Issue 9, September 2016, Page: E356, Giuseppe Gaetano Loscocco, Carmela Mannarelli, Annalisa Pacilli, Tiziana Fanelli, Giada Rotunno, Francesca Gesullo, Giuditta Corbizi-Fattori, Alessandro Maria Vannucchi and Paola Guglielmelli

    Version of Record online : 4 JUL 2016, DOI: 10.1002/ajh.24437

  19. Shortcomings of an approximate confidence interval for moment-based estimators of the between-study variance in random-effects meta-analysis

    Research Synthesis Methods

    David C. Hoaglin

    Version of Record online : 27 MAY 2016, DOI: 10.1002/jrsm.1205

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    Inherited genetic variation and overall survival following follicular lymphoma

    American Journal of Hematology

    Volume 87, Issue 7, July 2012, Pages: 724–726, Todd M. Gibson, Sophia S. Wang, James R. Cerhan, Matthew J. Maurer, Patricia Hartge, Thomas M. Habermann, Scott Davis, Wendy Cozen, Charles F. Lynch, Richard K. Severson, Nathaniel Rothman, Stephen J. Chanock and Lindsay M. Morton

    Version of Record online : 31 MAR 2012, DOI: 10.1002/ajh.23184