Clinical Genetics

Cover image for Vol. 83 Issue 5

May 2013

Volume 83, Issue 5

Pages 399–498

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
  3. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Genotype–phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia (pages 422–431)

      SG Mehta, M Khare, R Ramani, GDJ Watts, M Simon, KE Osann, S Donkervoort, E Dec, A Nalbandian, J Platt, M Pasquali, A Wang, T Mozaffar, CD Smith and VE Kimonis

      Version of Record online: 4 OCT 2012 | DOI: 10.1111/cge.12000

    2. Fabry disease in children: agalsidase-beta enzyme replacement therapy (pages 432–438)

      L Borgwardt, U Feldt-Rasmussen, AK Rasmussen, M Ballegaard and A Meldgaard Lund

      Version of Record online: 27 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01947.x

  4. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children (pages 439–445)

      S Jahnavi, V Poovazhagi, V Mohan, D Bodhini, P Raghupathy, A Amutha, P Suresh Kumar, P Adhikari, M Shriraam, T Kaur, AK Das, J Molnes, PR Njolstad, R Unnikrishnan and V Radha

      Version of Record online: 20 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01939.x

    2. Genetic heterogeneity in Pakistani microcephaly families (pages 446–451)

      M Sajid Hussain, S Marriam Bakhtiar, M Farooq, I Anjum, E Janzen, M Reza Toliat, H Eiberg, KW Kjaer, N Tommerup, AA Noegel, P Nürnberg, SM Baig and L Hansen

      Version of Record online: 7 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01932.x

    3. Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy (pages 452–456)

      JD Roberts, JC Herkert, J Rutberg, SM Nikkel, ACP Wiesfeld, D Dooijes, RM Gow, JP van Tintelen and MH Gollob

      Version of Record online: 10 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01950.x

    4. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness (pages 457–461)

      NA Hanchard, DR Murdock, PL Magoulas, M Bainbridge, D Muzny, YQ Wu, M Wang, AL McGuire, JR Lupski, RA Gibbs and CW Brown

      Version of Record online: 11 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01951.x

    5. Characterization of NF1 allele containing two nonsense mutations in exon 37 that segregates with neurofibromatosis type 1 (pages 462–466)

      E Hernández-Imaz, B Campos, FJ Rodríguez-Álvarez, O Abad, G Melean, J Gardenyes, Y Martín and C Hernández-Chico

      Version of Record online: 10 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01952.x

    6. MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome (pages 467–471)

      S Banka, E Howard, S Bunstone, KE Chandler, B Kerr, K Lachlan, S McKee, SG Mehta, ALT Tavares, J Tolmie and D Donnai

      Version of Record online: 18 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01955.x

  5. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations (pages 488–490)

      E Papari, M Bastami, A Farhadi, SS Abedini, M Hosseini, I Bahman, M Mohseni, M Garshasbi, L Abbasi Moheb, F Behjati, K Kahrizi, H-H Ropers and H Najmabadi

      Version of Record online: 18 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01949.x

    2. Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene (pages 491–493)

      J Muñoz-Muñoz, N Cuadrado-Grande, M-I Moreno-Carralero, B Hoyos-Sanabria, A Manubes-Guarch, A-F González, P Tejada-Palacios, A del-Castillo-Rueda and M-J Morán-Jiménez

      Version of Record online: 13 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01934.x

    3. Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis (pages 494–496)

      SH Seo, HS Ahn, YS Yu, HJ Kang, KD Park, SI Cho, JS Park, YJ Hyun, JY Kim, M-W Seong and SS Park

      Version of Record online: 10 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01954.x

    4. Estrogen receptor mutation in a girl with primary amenorrhea (pages 497–498)

      M Asadi, S Ghafouri-Fard, D Zare-Abdollahi, A Ebrahim-Habibi and N Matin

      Version of Record online: 22 JAN 2013 | DOI: 10.1111/cge.12083

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