Works matching IS 00099163 AND DT 1978 AND VI 13 AND IP 6

Results: 11

Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21-trisomic child.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 477, doi. 10.1111/j.1399-0004.1978.tb01201.x

By:

Gustavson, K.-H.;
Kjessler, B.;
Thorén, S.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1978, v. 13, n. 6, p. 512, doi. 10.1111/j.1399-0004.1978.tb01208.x
Publication type:: Article

Familial occurrence of lumbar spondylolysis and spondylolisthesis.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 471, doi. 10.1111/j.1399-0004.1978.tb01200.x

By:

Haukipuro, K.;
Keränen, N.;
Koivisto, E.;
Lindholm, R.;
Norio, R.;
Punto, L.

Publication type:

Article

The cerebro-oculo-facio-skeletal syndrome.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 486, doi. 10.1111/j.1399-0004.1978.tb01203.x

By:

B.Surana, Rawatmal;
Fraga, Juan R.;
Sinkford, Stanley M.

Publication type:

Article

Incomplete prenatal diagnosis of G-trisomy mosaicism.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 500, doi. 10.1111/j.1399-0004.1978.tb01205.x

By:

Simola, Kalle;
Aula, Pertti;
Ryynänen, Markku;
Koskull, Harriet von

Publication type:

Article

Letter to the Editors.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 511, doi. 10.1111/j.1399-0004.1978.tb01207.x

By:

Wahlström, Jan;
Gustavsson, K.-H.

Publication type:

Article

Pompe's disease: Diagnosis in kidney and leucocytes using 4-methylumbelliferyl-α-D-glucopyranoside.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 504, doi. 10.1111/j.1399-0004.1978.tb01206.x

By:

Broadhead, D. M.;
Butterworth, J.

Publication type:

Article

2:2 and 3:1 Meiotic disjunctions in a carrier of a reciprocal 10/14 translocation.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 481, doi. 10.1111/j.1399-0004.1978.tb01202.x

By:

Scheres, J. M. J. C.;
Hustinx, Th. W. J.;
Haar, B. G. A. ter;
Rutten, F. J.;
Mee-Wienen, H. H. A. M van der

Publication type:

Article

Genetic epidemiology of an institutionalized cohort of mental retardates.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 449, doi. 10.1111/j.1399-0004.1978.tb01198.x

By:

Morton, N. E.;
Matsuura, Janice;
Bart, R.;
Lew, R.

Publication type:

Article

Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 489, doi. 10.1111/j.1399-0004.1978.tb01204.x

By:

Hoefnagel, D.;
Wurster-Hill, D. H.;
Dupree, W. B.;
Benirschke, K.;
Fuld, G. L.

Publication type:

Article

Ichthyosis vulgaris showing features of the autosomal dominant and the X-linked recessive variants in the same family.

Published in:

Clinical Genetics, 1978, v. 13, n. 6, p. 462, doi. 10.1111/j.1399-0004.1978.tb01199.x

By:

Mevorah, B.;
Frenk, E.;
Pescia, G.

Publication type:

Article