Clinical Genetics

Cover image for Vol. 80 Issue 2

Special Issue: Exome Sequencing

August 2011

Volume 80, Issue 2

Pages 101–201

  1. COMMENTARY

    1. Top of page
    2. COMMENTARY
    3. REVIEWS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Changing the game with whole exome sequencing (pages 101–103)

      H Ostrer

      Version of Record online: 12 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01712.x

  2. REVIEWS

    1. Top of page
    2. COMMENTARY
    3. REVIEWS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Exome sequencing in Parkinson's disease (pages 104–109)

      JM Bras and AB Singleton

      Version of Record online: 16 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01722.x

    2. Exome sequencing and the genetics of intellectual disability (pages 117–126)

      S Topper, C Ober and S Das

      Version of Record online: 15 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01720.x

    3. Strategies for exome and genome sequence data analysis in disease-gene discovery projects (pages 127–132)

      PN Robinson, P Krawitz and S Mundlos

      Version of Record online: 13 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01713.x

  3. HOTSPOTS

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

    1. Top of page
    2. COMMENTARY
    3. REVIEWS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Exome sequencing in a family segregating for celiac disease (pages 138–147)

      AM Szperl, I Ricaño-Ponce, JK Li, P Deelen, A Kanterakis, V Plagnol, F van Dijk, HJ Westra, G Trynka, CJ Mulder, M Swertz, C Wijmenga and H Ch Zheng

      Version of Record online: 21 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01714.x

    2. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients (pages 148–160)

      NA Schlipf, R Schüle, S Klimpe, KN Karle, M Synofzik, J Schicks, O Riess, L Schöls and P Bauer

      Version of Record online: 13 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01715.x

  5. SHORT REPORTS

    1. Top of page
    2. COMMENTARY
    3. REVIEWS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Exome sequencing of two patients in a family with atypical X-linked leukodystrophy (pages 161–166)

      Y Tsurusaki, N Okamoto, Y Suzuki, H Doi, H Saitsu, N Miyake and N Matsumoto

      Version of Record online: 21 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01721.x

    2. Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion (pages 169–176)

      SA Boyadjiev, S-D Kim, A Hata, C Haldeman-Englert, EH Zackai, C Naydenov, S Hamamoto, RW Schekman and J Kim

      Version of Record online: 11 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01550.x

    3. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation (pages 177–183)

      M Fradin, C Stoetzel, J Muller, M Koob, D Christmann, C Debry, M Kohler, M Isnard, D Astruc, P Desprez, C Zorres, E Flori, H Dollfus and B Doray

      Version of Record online: 23 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01516.x

    4. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle (pages 184–190)

      A De Luca, A Sarkozy, R Ferese, F Consoli, F Lepri, ML Dentici, P Vergara, A De Zorzi, P Versacci, MC Digilio, B Marino and B Dallapiccola

      Version of Record online: 2 AUG 2010 | DOI: 10.1111/j.1399-0004.2010.01523.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. COMMENTARY
    3. REVIEWS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement (pages 196–198)

      M Al-Shammari, M Al-Husain, T Al-Kharfy and FS Alkuraya

      Version of Record online: 12 JUL 2011 | DOI: 10.1111/j.1399-0004.2010.01613.x

    2. Maternal uniparental disomy of chromosome 16 in a patient with adenine phosphoribosyltransferase deficiency (pages 199–201)

      I Ceballos-Picot, G Guest, V Moriniere, L Mockel, M Daudon, V Malan, C Antignac and L Heidet

      Version of Record online: 12 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01626.x

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