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There are 6493 results for: content related to: Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS

  1. Lynch syndrome mutations shared by the Baltic States and Poland

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 190–193, D. Dymerska, G. Kurzawski, J. Suchy, H. Roomere, K. Toome, A. Metspalu, R. Janavičius, P. Elsakov, A. Irmejs, D. Berzina, E. Miklaševičs, J. Gardovskis, E. Rebane, M. Kelve, J. Kładny, T. Huzarski, J. Gronwald, T. Dębniak, T. Byrski, A. Stembalska, D. Surdyka, M. Siołek, M. Szwiec, Z. Banaszkiewicz, R. Wiśniowski, E. Kilar, R.J. Scott and J. Lubiński

    Article first published online : 5 SEP 2013, DOI: 10.1111/cge.12251

  2. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 595–597, C. Baquero-Montoya, M.C. Gil-Rodríguez, D. Braunholz, M.E. Teresa-Rodrigo, C. Obieglo, B. Gener, T. Schwarzmayr, T.M. Strom, P. Gómez-Puertas, B. Puisac, G. Gillessen-Kaesbach, A. Musio, F.J. Ramos, F.J. Kaiser and J. Pié

    Article first published online : 26 JAN 2014, DOI: 10.1111/cge.12333

  3. Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 99–101, S. Assereto, A. Robbiano, M. Di Rocco, A. Rossi, D. Cassandrini, C. Panicucci, G. Brigati, R. Biancheri, C. Bruno, C. Minetti, H. Trucks, T. Sander, F. Zara and E. Gazzerro

    Article first published online : 11 SEP 2013, DOI: 10.1111/cge.12248

  4. Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

    Clinical Genetics

    E. Tham, G. Nishimura, S. Geiberger, E. Horemuzova, D. Nilsson, A. Lindstrand, A. Hammarsjö, M. Armenio, O. Mäkitie, B. Zabel, A. Nordgren, M. Nordenskjöld and G. Grigelioniene

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12466

  5. The presence of KIR2DS5 confers protection against adult immune thrombocytopenia

    Tissue Antigens

    Volume 83, Issue 3, March 2014, Pages: 154–160, L. A. Seymour, J. P. Nourse, P. Crooks, L. Wockner, R. Bird, H. Tran and M. K. Gandhi

    Article first published online : 12 FEB 2014, DOI: 10.1111/tan.12295

  6. A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

    Clinical Genetics

    J.W. Yun, K.I. Jo, H.I. Woo, S.-Y. Lee, C.-S. Ki, J.-W. Kim, J. Song, D.H. Lee, Y.-W. Lee and H.-D. Park

    Article first published online : 21 FEB 2014, DOI: 10.1111/cge.12350

  7. Optimizing resource and data security in shared sensor networks

    Security and Communication Networks

    Christophe Huygens, Nelson Matthys and Wouter Joosen

    Article first published online : 14 JUN 2011, DOI: 10.1002/sec.342

  8. You have free access to this content
    Examining missing data mechanisms via homogeneity of parameters, homogeneity of distributions, and multivariate normality

    Wiley Interdisciplinary Reviews: Computational Statistics

    Volume 6, Issue 1, January/February 2014, Pages: 56–73, Mortaza Jamshidian and Ke-Hai Yuan

    Article first published online : 21 DEC 2013, DOI: 10.1002/wics.1287

  9. Geographically heterogeneous temporal trends of extreme precipitation in Wisconsin, USA during 1950–2006

    International Journal of Climatology

    Volume 34, Issue 9, July 2014, Pages: 2841–2852, Woonsup Choi, Reza Tareghian, Jinmu Choi and Chul-sue Hwang

    Article first published online : 25 NOV 2013, DOI: 10.1002/joc.3878

  10. Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

    Clinical Genetics

    D. Oz-Levi, B. Weiss, A. Lahad, S. Greenberger, B. Pode-Shakked, R. Somech, T. Olender, P. Tatarsky, D. Marek-Yagel, E. Pras, Y. Anikster and D. Lancet

    Article first published online : 21 OCT 2014, DOI: 10.1111/cge.12494

  11. Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 93–95, L.-Y. Ma, L. Wang, Y.-M. Yang, Y. Lu, F.-B. Cheng and X.-H. Wan

    Article first published online : 1 APR 2014, DOI: 10.1111/cge.12341

  12. AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 396–398, K. Nakamura, M. Kato, J. Tohyama, T. Shiohama, K. Hayasaka, K. Nishiyama, H. Kodera, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 9 JUN 2013, DOI: 10.1111/cge.12188

  13. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot–Marie–Tooth neuropathy

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 592–594, Y.S. Hyun, H.J. Park, S.-H. Heo, B.R. Yoon, S.H. Nam, S.-B. Kim, C.I. Park, B.-O. Choi and K.W. Chung

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12327

  14. Multidimensional compressed sensing and their applications

    Wiley Interdisciplinary Reviews: Data Mining and Knowledge Discovery

    Volume 3, Issue 6, November/December 2013, Pages: 355–380, Cesar F. Caiafa and Andrzej Cichocki

    Article first published online : 18 OCT 2013, DOI: 10.1002/widm.1108

  15. Bootstraps, permutation tests, and sampling orders of magnitude faster using SAS®

    Wiley Interdisciplinary Reviews: Computational Statistics

    Volume 5, Issue 5, September/October 2013, Pages: 391–405, John D. (“J.D.”) Opdyke

    Article first published online : 24 JUN 2013, DOI: 10.1002/wics.1266

  16. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy

    Clinical Genetics

    S. Miyatake, H. Tada, S. Moriya, J. Takanashi, Y. Hirano, M. Hayashi, Y. Oya, M. Nakashima, Y. Tsurusaki, N. Miyake, N. Matsumoto and H. Saitsu

    Article first published online : 8 SEP 2014, DOI: 10.1111/cge.12455

  17. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

    Clinical Genetics

    M. S. Zaki, L. Selim, L. Mansour, I.G. Mahmoud, A. G. Fenstermaker, S. B. Gabriel and J. G. Gleeson

    Article first published online : 11 DEC 2014, DOI: 10.1111/cge.12516

  18. Homozygosity mapping reveals founder SEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II

    Clinical Genetics

    B. Singleton, D. Bansal, N. Varma, R. Das, S. Naseem, U.N. Saikia, P. Malhotra, S. Varma, R.K. Marwaha, M.-J. King and M. Ahmed

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12527

  19. Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan

    Clinical Genetics

    J.B. Vincent, T. Jamil, M.A. Rafiq, Z. Anwar, M. Ayaz, A. Hameed, T. Nasr, F. Naeem, N.A. Khattak, M. Carter, I. Ahmed, P. John, E. Wiame, D.M. Andrade, E.V. Schaftingen, A. Mir and M. Ayub

    Article first published online : 30 JUL 2014, DOI: 10.1111/cge.12445

  20. Expanding the clinical spectrum and allelic heterogeneity in van den Ende–Gupta syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 492–494, N. Patel, M.A. Salih, M.J. Alshammari, F. Abdulwahhab, N. Adly, F. Alzahrani, E.A. Elgamal, H.Y. Elkhashab, M. Al-Qattan and F.S. Alkuraya

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12205