Clinical Genetics

Cover image for Clinical Genetics

May 1973

Volume 4, Issue 3

Pages 173–300

  1. Original Article

    1. Top of page
    2. Original Article
    1. The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue (pages 186–192)

      E. Gazit, R. M. Goodman, M. Bat-Miriam, Katznelson and Y. Rotem

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01141.x

    2. Autosomal monosomy (45, XX, C—) in a humanembryo with total amelia and further malformations (pages 193–202)

      I. H. Pawlowitzki, A. Cenani and H. J. Frischbier

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01142.x

    3. Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation (pages 203–209)

      J. Jammes, S. A. Mirhosseini and L. B. Holmes

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01143.x

    4. Triploidy 69, XXX in a stillborn girl (pages 210–212)

      I. Halbrecht, L. Komlos, F. Shabtay, M. Solomon and J. A. Böök

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01144.x

    5. Male and female differentiation of the human gonad (pages 213–219)

      Krzysztof Boczkowski

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01145.x

    6. Phenotypic variation in the popliteal pterygium syndrome (pages 220–228)

      D. Bixler, C. Poland and W. E. Nance

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01146.x

    7. Hereditary angioedema: Report of a large kindred with a rare genetic variant of C1-esterase inhibitor (pages 229–235)

      M. De March, H. Jacot-Guillarmod, T. G. Ressa and A. O. Carbonara

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01147.x

    8. Antenatal diagnosis of argininosuccinic aciduria (pages 236–240)

      S. I. Goodman, J. W. Mace, B. Turner and W. J. Garrett

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01148.x

    9. Partial trisomy 21 (pages 241–251)

      P. Aula, J. Leisti and H. von Koskull

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01149.x

    10. Fluorescent bodies in amniotic fluid cells (pages 252–255)

      Matilda M. Nelson

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01150.x

    11. Metachromatic leukodystrophy: : Prenatal detection of arylsulphatase A deficiency (pages 256–259)

      C. R. van der Hagen, Anne-Lise Børresen, K. Molne, G. Oftedal, K. Bjøro and K. Berg

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01151.x

    12. Mass screening newborns for mucopolysaccharidoses (pages 260–263)

      J. Sabater, M. Villalba and A. Maya

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01152.x

    13. Concurrence of myotonic dystrophy and XXY Klinefelter syndrome (pages 264–269)

      R. S. Sparkes, L. Samec, S. A. Kaplan and W. F. Coulson

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01153.x

    14. Retinal aplasia in association with macular coloboma, keratoconus and cataract (pages 270–274)

      D. A. Leighton and R. Harris

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01154.x

    15. Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome (pages 275–278)

      T. Cohen, A. Brand-Auraban, C. Karshai, A. Jacob, I. Gay, J. Tsitsianov, T. Shapiro, S. Jatziv and A. Ashkenazi

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01155.x

    16. Catechol-O-methyltransferase activity in erythrocytes in Down's syndrome (pages 279–280)

      K.-H. Gustavson, L. Wetterberg, M. Bäckström and S. B. Ross

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01156.x

    17. Demonstration of hyper-α-lipoproteinemia in three diabetic patients (pages 281–285)

      L. E. Wille and S. Aarseth

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01157.x

    18. Determination of Tay-Sachs genotypes in pregnant women (pages 286–287)

      R. Navon, Z. Mark, S. Mashiah and R. Padeh

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01158.x

    19. Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder (pages 291–296)

      S. Armendares, L. Buentello and S. Frenk

      Version of Record online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1973.tb01160.x

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