Clinical Genetics

Cover image for Clinical Genetics

July 1995

Volume 48, Issue 1

Pages 1–55

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    1. Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings — a new recessive syndrome? (pages 1–5)

      P. Strómme, O. Stokke, E. Jellum, O.K. Skjeldal and R. Baumgartner

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04045.x

    2. Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically (pages 6–11)

      Torben Larsen, Claus Højbjerg Gravholt, Annette Tillebeck, Hanne Larsen, Marianne Bryder Jensen, Johannes Nielsen and Ursula Friedrich

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04046.x

    3. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia (pages 12–16)

      T. H. Fagerlund, G. Islander, E. R. Twetman and K. Berg

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04047.x

    4. Health care utilization and perceptions of health among adolescents and adults with Turner syndrome (pages 17–22)

      Christopher Cunniff, Susan J. Hassed, Amy E. Hendon and Vaughn I. Rickert

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04048.x

    5. Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease (pages 23–28)

      H. K. Jensen, P. S. Hansen, L. G. Jensen, M. J. Kristensen, I. C. Klausen, M. Kjeldsen, L. Lemming, L. Bolund, N. Gregersen and O. Færgeman

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04049.x

    6. Clinical traits and molecular findings in 46,XX males (pages 29–34)

      Marisol López, Leda Torres, Juan Pablo Méndez, Alicia Cervantes, Gregorio Pérez-Palacios, Robert P. Erickson, Guillermo Alfaro and Susana Kofman-Alfaro

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04050.x

    7. Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia (pages 35–40)

      Joëlle Günthard, Christian Fliegel, Helmut Ohnacker, Markus Rutishauser and Erika Bühler

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04051.x

    8. Interstitial deletion of 8p: report of two patients and review of the literature (pages 41–45)

      Masato Tsukahara, Ichiro Murano, Yoshiharu Aoki, Tadashi Kajii and Susumu Furukawa

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04052.x

    9. Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M (pages 46–48)

      Margriet E. M. Kraakman, Michel de Weers, Teresa Español, Ruud K. B. Schuurman and Rudolf W. Hendriks

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04053.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor
    1. Molecular characterization of trisomic segment 3p24.1[RIGHTWARDS ARROW]3pter: a case with review of the literature (pages 49–53)

      Robert A. Conte, Jean H. Pitter and Ram S. Verma

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1995.tb04054.x

  3. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Letter to the Editor

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