Works matching IS 00099163 AND DT 1974 AND VI 5 AND IP 4

Results: 16

An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 368, doi. 10.1111/j.1399-0004.1974.tb01708.x

By:

Galjaard, H.;
Niermeiwr, M. F.;
Hahnemann, N.;
Mohr, J.;
Sørensen, S. A.

Publication type:

Article

The Cerebro-Oculo-Facio-Skeletal syndrome.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 294, doi. 10.1111/j.1399-0004.1974.tb01696.x

By:

Preus, M.;
Fraser, F. C.

Publication type:

Article

The MASA syndrome: A new heritable mental retardation syndrome.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 298, doi. 10.1111/j.1399-0004.1974.tb01697.x

By:

Bianchine, Josette W.;
Lewis, Royce C.

Publication type:

Article

Serum dopamine-β-hydroxylase levels in Down's syndrome.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 312, doi. 10.1111/j.1399-0004.1974.tb01699.x

By:

Coleman, Mary;
Campbell, MaCda;
Freedman, Lewis S.;
Roffman, Mark;
Ebstein, Richard P.;
Goldstein, Menek

Publication type:

Article

Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 363, doi. 10.1111/j.1399-0004.1974.tb01707.x

By:

Beighton, Peter

Publication type:

Article

The manifesting carrier in Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 271, doi. 10.1111/j.1399-0004.1974.tb01694.x

By:

Moser, H.;
Emery, A. E. H.

Publication type:

Article

Frequency and segregation of 16qh+.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 316, doi. 10.1111/j.1399-0004.1974.tb01700.x

By:

Nielsen, J.;
Friedrich, U.;
Hreidarsson, Á. B.;
Zeuthen, E.

Publication type:

Article

Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: III, β-glucuronidase, N-acetyl-β-D-glucosaminidase, α-mannosidase and acid phosphatase.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 356, doi. 10.1111/j.1399-0004.1974.tb01706.x

By:

Butterworth, J.;
Sutherland, G. K.;
Broadhead, D. M.;
Bain, A. D.

Publication type:

Article

Familial neuromuscular disease with 'myotubes'.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 327, doi. 10.1111/j.1399-0004.1974.tb01702.x

By:

Meyers, K. R.;
Golomb, H. M.;
Hansen, J. L.;
McKusick, V. A.

Publication type:

Article

Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 338, doi. 10.1111/j.1399-0004.1974.tb01703.x

By:

Spence, M. Anne;
Elston, R. C.;
CedeKbaum, S. D.

Publication type:

Article

The National Foundation - March of Dimes.

Published in:: Clinical Genetics, 1974, v. 5, n. 4, p. 378, doi. 10.1111/j.1399-0004.1974.tb01709.x
Publication type:: Article

Lysosomal enzyme levels in human amniotic fluid cells in tissue culture: II. α-galactosidase, β-galactosidase and α-arabinosidase.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 351, doi. 10.1111/j.1399-0004.1974.tb01705.x

By:

Sutherland, G. R.;
Butterworth, J.;
Broadhead, D. M.;
Bain, A. D.

Publication type:

Article

Complete failure of eruption of all permanent teeth: An autosomal dominant disorder.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 322, doi. 10.1111/j.1399-0004.1974.tb01701.x

By:

SHOKElR, M. H. K.

Publication type:

Article

X-linked idiopathic thrombocytopenia.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 344, doi. 10.1111/j.1399-0004.1974.tb01704.x

By:

Moore, John R.

Publication type:

Article

Autosomal recessive Cerebro-Oculo-Facio-Skeletal (COFS) syndrome.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 285, doi. 10.1111/j.1399-0004.1974.tb01695.x

By:

Pena, S. D. J.;
Shokeir, M. H. K.

Publication type:

Article

Osteogenesis irnperfecta congenita.

Published in:

Clinical Genetics, 1974, v. 5, n. 4, p. 307, doi. 10.1111/j.1399-0004.1974.tb01698.x

By:

Suen, Vitus F.;
Harris, Vivian;
Berman, Julian L.

Publication type:

Article