Clinical Genetics

Cover image for Clinical Genetics

July 2008

Volume 74, Issue 1

Pages 1–95

  1. Review

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
  2. HotSpots

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
  3. Original Articles

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    1. Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients (pages 20–30)

      S Taylor, S Treloar, K Barlow-Stewart, M Stranger and M Otlowski

      Version of Record online: 19 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01016.x

    2. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome (pages 31–38)

      J Wincent, E Holmberg, K Strömland, M Soller, L Mirzaei, T Djureinovic, KL Robinson, BM Anderlid and J Schoumans

      Version of Record online: 28 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01014.x

  4. Short Reports

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    1. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations (pages 39–46)

      M Attanasio, I Lapini, L Evangelisti, L Lucarini, B Giusti, MC Porciani, R Fattori, C Anichini, R Abbate, GF Gensini and G Pepe

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01007.x

    2. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype (pages 47–53)

      L Avrahami, S Maas, M Pasmanik-Chor, L Rainshtein, N Magal, JHS Smitt, J Van Marle, M Shohat and L Basel-Vanagaite

      Version of Record online: 28 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01006.x

    3. Concurrent microdeletion and duplication of 22q11.2 (pages 61–67)

      E Blennow, K Lagerstedt, H Malmgren, S Sahlén, J Schoumans and BM Anderlid

      Version of Record online: 28 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01008.x

    4. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome (pages 68–74)

      K Boztug, M Germeshausen, I Avedillo Díez, V Gulacsy, J Diestelhorst, M Ballmaier, K Welte, L Maródi, LI Chernyshova and C Klein

      Version of Record online: 13 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01019.x

    5. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies (pages 82–87)

      P Sivadorai, S Cherninkova, S Bouwer, K Kamenarova, D Angelicheva, P Seeman, K Hollingsworth, V Mihaylova, A Oscar, G Dimitrova, R Kaneva, I Tournev and L Kalaydjieva

      Version of Record online: 5 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01024.x

  5. Letter to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letter to the Editor
    1. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal (pages 93–95)

      K Izumi, T Kohta, Y Kimura, S Ishida, T Takahashi, A Ishiko and K Kosaki

      Version of Record online: 28 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01010.x

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