Clinical Genetics

Cover image for Clinical Genetics

November 1976

Volume 10, Issue 5

Pages 249–376

  1. Original Article

    1. Top of page
    2. Original Article
    3. Addendum
    4. Original Article
    5. Abstracts
    1. A methodology for establishing a diagnostic index for syndromes of unknown etiology (pages 249–259)

      M. Preus and F. C. Fraser

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00045.x

    2. Prenatal diagnosis of fucosidosis (pages 260–264)

      Livia Poenaru, Jean-Claude Dreyfus, Joëlle Boue, Henriette Nicolesco, Nicole Ravise and Jacques Bamberger

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00046.x

    3. True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case (pages 265–272)

      M. De Marchi, A. O. CARBONARA, F. Carozzi, F. Massara, L. Belforte, G. M. Moldsatti, D. Bisbocci, M. P. Passarino and G. Palestro

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00047.x

    4. Sanfilippo B disease in two related sibships. Biochemical studies in patients, parents and sibs (pages 273–278)

      K. O. Liem, M. A. H. Giesberts, J. J. P. van de Kamp, J. F. van Pelt and G. J. M. Hooghwinkel

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00048.x

    5. Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships (pages 279–284)

      J. J. P. van de KAMP, J. F. van PELT, K. O. Liem, M. A. H. Giesberts, L. T. M. Niepoth and C. R. Staalman

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00049.x

  2. Addendum

    1. Top of page
    2. Original Article
    3. Addendum
    4. Original Article
    5. Abstracts
    1. You have free access to this content
      Addendum (pages 297–302)

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00051.x

  3. Original Article

    1. Top of page
    2. Original Article
    3. Addendum
    4. Original Article
    5. Abstracts
    1. Hypertrichosis lanuginosa in a mother and son (pages 303–306)

      N. Frejre-Maia, J. Felizau, A. C. de Figueiredo, John M. Opitz, Marisa Parreira and Néria A. Maia

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00052.x

    2. Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies (pages 307–312)

      Grant Higginson, David D. Weaver, R. Ellen Magenis, Gerald H. Prescott, Claudia Haag and Douglas J. Hepburn

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00053.x

    3. The frequency of PKU and hyperphenylalaninemia in Sweden - a study in institutions for the mentally retarded as well as in neonates (pages 313–318)

      Gösta Holmgren, Agne Larsson, Hans Palmstierna and Jan Alm

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00054.x

    4. Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1 (pages 319–324)

      Kenneth L. Garver, Angela M. Ciocco and Nancy A. Turack

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00055.x

    5. Aberrant axillary breast tissue: A report of a family with six affected women in two generations (pages 325–328)

      Sarah K. Weinberg and Arno G. Motulsky

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00056.x

    6. Structural aberrations of the long arm of chromosome no. 22: Report of a family with translocation t(11;22) (q25;q11) (pages 329–336)

      Wei-ning Fu, Digamber S. Borgaonkar, Peter P. Ladewig, Jane Weaver and Herbert H. Pomerance

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00057.x

    7. Survey of amniocentesis for fetal sex determination in hemophilia carriers (pages 337–342)

      Roberta Spiro and Marie-Louise Lubs

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00058.x

    8. Further evidence'for the autosomal-recessive inheritance of the COFS syndrome (pages 343–346)

      I. W. Lurie, E. D. Cherstvoy, G. I. Lazjuk, M. K. Nedzved and S. S. Usoev

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00059.x

  4. Abstracts

    1. Top of page
    2. Original Article
    3. Addendum
    4. Original Article
    5. Abstracts
    1. ABSTRACTS (pages 348–376)

      Article first published online: 23 APR 2008 | DOI: 10.1111/j.1399-0004.1976.tb00060.x

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