Clinical Genetics

Cover image for Vol. 84 Issue 3

September 2013

Volume 84, Issue 3

Pages 201–301

  1. OBITUARY

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  2. REVIEW

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  3. HOTSPOTS

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
  4. ORIGINAL ARTICLES

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Aging in Rett syndrome: a longitudinal study (pages 223–229)

      NSJ Halbach, EEJ Smeets, C Steinbusch, MA Maaskant, D van Waardenburg and LMG Curfs

      Article first published online: 7 DEC 2012 | DOI: 10.1111/cge.12063

  5. SHORT REPORTS

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Cross-sectional assessment of pain and physical function in skeletal dysplasia patients (pages 237–243)

      Y Alade, D Tunkel, K Schulze, J McGready, G Jallo, M Ain, T Yost and J Hoover-Fong

      Article first published online: 29 NOV 2012 | DOI: 10.1111/cge.12045

    2. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families (pages 244–250)

      M Pinheiro, C Pinto, A Peixoto, I Veiga, B Mesquita, R Henrique, P Lopes, O Sousa, M Fragoso, LM Dias, M Baptista, C Marinho, E Mangold, C Vaccaro, DG Evans, S Farrington, MG Dunlop and MR MR Teixeira

      Article first published online: 27 DEC 2012 | DOI: 10.1111/cge.12062

    3. Knowledge of the Genetic Information Nondiscrimination act among individuals affected by Huntington disease (pages 251–257)

      ER Dorsey, KC Darwin, PE Nichols, JH Kwok, C Bennet, LS Rosenthal, Y Bombard, I Shoulson and E Oster

      Article first published online: 20 DEC 2012 | DOI: 10.1111/cge.12065

    4. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11 (pages 258–264)

      M Al-Owain, J Al-Zahrani, A Al-Bakheet, N Abudheim, B Al-Younes, H Aldhalaan, H Al-Zaidan, D Colak, F Almohaileb, ME Abouzied, F Al-Fadhli, B Meyer and N Kaya

      Article first published online: 21 DEC 2012 | DOI: 10.1111/cge.12066

    5. FANCA and FANCG are the major Fanconi anemia genes in the Korean population (pages 271–275)

      J Park, N-G Chung, H Chae, M Kim, S Lee, Y Kim, J-W Lee, B Cho, DC Jeong and IY Park

      Article first published online: 7 NOV 2012 | DOI: 10.1111/cge.12042

    6. Mutation identification of Fabry disease in families with other lysosomal storage disorders (pages 281–285)

      A Zampetti, L Fania, D Antuzzi, F Giurdanella, M Gnarra, F Bertola, S Lualdi, M Filocamo, A Morrone and C Feliciani

      Article first published online: 28 DEC 2012 | DOI: 10.1111/cge.12071

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. OBITUARY
    3. REVIEW
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan (pages 290–293)

      MI Khan, M Ajmal, S Micheal, M Azam, A Hussain, A Shahzad, H Venselaar, H Bokhari, IJ de Wijs, LH Hoefsloot, NK Waheed, RWJ Collin, AI den Hollander, R Qamar and FPM Cremers

      Article first published online: 7 NOV 2012 | DOI: 10.1111/cge.12039

    2. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families (pages 294–296)

      K Lee, I Chiu, RLP Santos-Cortez, S Basit, S Khan, Z Azeem, PB Andrade, SS Kim, W Ahmad and SM Leal

      Article first published online: 23 NOV 2012 | DOI: 10.1111/cge.12047

    3. A germline mosaic BRCA1 exon deletion in a woman with bilateral basal-like breast cancer (pages 297–299)

      I Delon, A Taylor, A Molenda, J Drummond, K Oakhill, A Girling, H Liu, J Whittaker, R Treacy and M Tischkowitz

      Article first published online: 6 DEC 2012 | DOI: 10.1111/cge.12057

SEARCH

SEARCH BY CITATION