Clinical Genetics

Cover image for Vol. 85 Issue 2

February 2014

Volume 85, Issue 2

Pages 101–202

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children (pages 120–126)

      J.C. Sapp, D. Dong, C. Stark, L.E. Ivey, G. Hooker, L.G. Biesecker and B.B. Biesecker

      Version of Record online: 20 SEP 2013 | DOI: 10.1111/cge.12254

      Section Editor:

      Aad Tibben, email: a.tibben@lumc.nl

  3. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype (pages 127–137)

      K. Shibbani, A.C. Fahed, L. Al-Shaar, M. Arabi, G. Nemer, F. Bitar and M. Majdalani

      Version of Record online: 12 MAR 2013 | DOI: 10.1111/cge.12112

    2. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? (pages 138–146)

      M.J.M. Nowaczyk, B.A. Thompson, S. Zeesman, U. Moog, P.A. Sanchez-Lara, P.L. Magoulas, R.E. Falk, J.E. Hoover-Fong, D.A.S. Batista, S.M. Amudhavalli, S.M. White, G.E. Graham and K.A. Rauen

      Version of Record online: 2 APR 2013 | DOI: 10.1111/cge.12116

    3. Chromosomal microarray impacts clinical management (pages 147–153)

      E.R. Riggs, K.E. Wain, D. Riethmaier, B. Smith-Packard, W.A. Faucett, N. Hoppman, E.C. Thorland, V.C. Patel and D.T. Miller

      Version of Record online: 21 FEB 2013 | DOI: 10.1111/cge.12107

    4. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia (pages 154–158)

      C. Bettencourt, J.L. López-Sendón, J. García-Caldentey, P. Rizzu, I.M.C. Bakker, O. Shomroni, B. Quintáns, J.R. Dávila, M.R. Bevova, M.-J. Sobrido, P. Heutink and J.G. de Yébenes

      Version of Record online: 25 MAR 2013 | DOI: 10.1111/cge.12133

  4. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect (pages 159–165)

      J.J. Magaña, Y.S. Tapia-Guerrero, L. Velázquez-Pérez, C.M. Cerecedo-Zapata, M. Maldonado-Rodríguez, J.S. Jano-Ito, N. Leyva-García, R. González-Piña, E. Martínez-Cruz, O. Hernández-Hernández and B. Cisneros

      Version of Record online: 11 MAR 2013 | DOI: 10.1111/cge.12114

    2. Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia (pages 166–171)

      R.A. Maselli, J. Arredondo, J. Nguyen, M. Lara, F. Ng, M. Ngo, J.M. Pham, Q. Yi, J.M. Stajich, K. McDonald, M.A. Hauser and R.L. Wollmann

      Version of Record online: 11 MAR 2013 | DOI: 10.1111/cge.12118

    3. Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis (pages 172–177)

      O. M'hamdi, C. Redin, C. Stoetzel, I. Ouertani, M. Chaabouni, F. Maazoul, R. M'rad, J.L. Mandel, H. Dollfus, J. Muller and H. Chaabouni

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12129

    4. Polymicrogyria with dysmorphic basal ganglia? Think tubulin! (pages 178–183)

      D. Amrom, I. Tanyalçin, H. Verhelst, N. Deconinck, G.J. Brouhard, J.-C. Décarie, T. Vanderhasselt, S. Das, F.F. Hamdan, W. Lissens, J.L. Michaud and A.C. Jansen

      Version of Record online: 24 APR 2013 | DOI: 10.1111/cge.12141

    5. Living with inborn errors of cholesterol biosynthesis: lessons from adult patients (pages 184–188)

      M.L. Cardoso, M. Barbosa, D. Serra, E. Martins, A. Fortuna, M. Reis-Lima, A. Bandeira, A. Balreira and F. Marques

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12139

  5. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome (pages 194–197)

      H.E. Feberwee, I. Feenstra, S. Oberoi, I.E. Sama, C.W. Ockeloen, F. Clum, A. Slavotinek, M.A.R. Kuijpers, D. Dooijes, A.M. Kuijpers-Jagtman, T. Kleefstra and C.E.L. Carels

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12125

    2. Genetic compound heterozygosity for Southeast Asian ovalocytosis and thalassemia in Thailand: prevalence and phenotypic analysis (pages 198–200)

      L. Ngouprommin, N. Sae-ung, S. Fucharoen, G. Fucharoen, K. Sanchaisuriya and A. Jetsrisuparb

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12128

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