Clinical Genetics

Cover image for Clinical Genetics

December 2008

Volume 74, Issue 6

Pages 493–574

  1. Developmental Biology: Frontiers for Clinical Genetics

    1. Top of page
    2. Developmental Biology: Frontiers for Clinical Genetics
    3. Short Reports
    4. Letters to the Editor
    1. The Genetics of Birth Timing: Insights into a Fundamental Component of Human Development (pages 493–501)

      BP Chaudhari, J Plunkett, CK Ratajczak, TT Shen, EA DeFranco and LJ Muglia

      Version of Record online: 20 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01124.x

  2. Short Reports

    1. Top of page
    2. Developmental Biology: Frontiers for Clinical Genetics
    3. Short Reports
    4. Letters to the Editor
    1. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients (pages 502–512)

      J Oliveira, R Santos, I Soares-Silva, P Jorge, E Vieira, ME Oliveira, A Moreira, T Coelho, JC Ferreira, MJ Fonseca, C Barbosa, J Prats, ML Aríztegui, ML Martins, T Moreno, K Heinimann, C Barbot, SI Pascual-Pascual, A Cabral, I Fineza, M Santos and E Bronze-da-Rocha

      Version of Record online: 12 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01068.x

    2. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families (pages 513–521)

      Z-Y Wu, Y Lin, W-J Chen, G-X Zhao, H Xie, S-X Murong and N Wang

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01039.x

    3. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome (pages 522–530)

      JM Hertz, I Juncker and N Marcussen

      Version of Record online: 9 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01051.x

    4. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes (pages 531–538)

      C Gervasini, R Pfundt, P Castronovo, S Russo, G Roversi, M Masciadri, D Milani, G Zampino, A Selicorni, EFPM Schoenmakers and L Larizza

      Version of Record online: 16 SEP 2008 | DOI: 10.1111/j.1399-0004.2008.01086.x

    5. Anderson’s disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities (pages 546–552)

      M Silvain, D Bligny, T Aparicio, P Laforêt, A Grodet, N Peretti, D Ménard, F Djouadi, C Jardel, JM Bégué, F Walker, J Schmitz, A Lachaux, LP Aggerbeck and ME Samson-Bouma

      Version of Record online: 11 SEP 2008 | DOI: 10.1111/j.1399-0004.2008.01069.x

    6. Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4 (pages 560–565)

      E Steichen-Gersdorf, I Gaßner, A Superti-Furga, R Ullmann, S Stricker, E Klopocki and S Mundlos

      Version of Record online: 9 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01050.x

    7. Attitudes of couples identified through screening as carriers of Gaucher disease type 1 (pages 566–570)

      S Zuckerman, A Lahad, A Zimran, E Levy-Lahad and M Sagi

      Version of Record online: 21 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01063.x

  3. Letters to the Editor

    1. Top of page
    2. Developmental Biology: Frontiers for Clinical Genetics
    3. Short Reports
    4. Letters to the Editor
    1. Age-dependent risks in genetic counseling for spinocerebellar ataxia type 2 (pages 571–573)

      LE Almaguer Mederos, CL Proenza, Y Rodríguez Almira, K Escalona Batallán, N Santos Falcón, E Martínez Góngora, D Cuello Almarales, L Velásquez Pérez and M Paneque Herrera

      Version of Record online: 20 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01073.x

    2. You have full text access to this OnlineOpen article
      A thorough MECP2 mutation analysis (page 574)

      K Ravn and JB Nielsen

      Version of Record online: 30 OCT 2008 | DOI: 10.1111/j.1399-0004.2008.01082.x

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