Clinical Genetics

Cover image for Clinical Genetics

June 2008

Volume 73, Issue 6

Pages 507–593

  1. Review

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. The skeletal manifestations of the congenital disorders of glycosylation (pages 507–515)

      D Coman, M Irving, P Kannu, J Jaeken and R Savarirayan

      Article first published online: 7 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01015.x

  2. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
  3. HotSpots

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. DNA methylation and mental retardation (pages 531–534)

      ME Grant

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00979_3.x

  4. Original Articles

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings (pages 535–544)

      Y Miyoshi, M Akagi, AK Agarwal, N Namba, K Kato-Nishimura, I Mohri, M Yamagata, S Nakajima, S Mushiake, M Shima, RJ Auchus, M Taniike, A Garg and K Ozono

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00992.x

    2. Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis (pages 545–553)

      R Yanaru-Fujisawa, T Matsumoto, Y Ushijima, M Esaki, M Hirahashi, M Gushima, T Yao, Y Nakabeppu and M Iida

      Article first published online: 14 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00998.x

  5. Short Reports

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia (pages 554–565)

      M Tekin, H Öztürkmen Akay, S Fitoz, S Birnbaum, FB Cengiz, L Sennaroğlu, A İncesulu, EB Yüksel Konuk, A Hasanefendioğlu Bayrak, S Şentürk, İ Cebeci, GE Ütine, E Tunçbilek, WE Nance and D Duman

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01004.x

    2. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23 (pages 566–572)

      M Stuhrmann, HC Hennies, IA Bukhari, K Brakensiek, G Nürnberg, C Becker, J Huebener, MC Miranda, H Frye-Boukhriss, S Knothe, J Schmidtke and E-HA El-Harith

      Article first published online: 7 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01000.x

    3. Mowat–Wilson syndrome: an underdiagnosed syndrome? (pages 579–584)

      E Engenheiro, RS Møller, M Pinto, G Soares, M Nikanorova, IM Carreira, R Ullmann, N Tommerup and Z Tümer

      Article first published online: 28 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00997.x

    4. Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion (pages 585–590)

      J-S Fang, K-F Lee, C-T Huang, C-L Syu, K-J Yang, L-H Wang, D-L Liao and C-H Chen

      Article first published online: 9 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00995.x

  6. Letter to the Editor

    1. Top of page
    2. Review
    3. Developmental Biology: Frontiers for Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letter to the Editor
    1. First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement (pages 591–593)

      L Sztriha, C Panzeri, R Kálmánchey, N Szabó, E Endreffy, S Túri, C Baschirotto, N Bresolin, Z Vekerdy and MT Bassi

      Article first published online: 3 APR 2008 | DOI: 10.1111/j.1399-0004.2008.00993.x

SEARCH

SEARCH BY CITATION