Works matching IS 00099163 AND DT 1976 AND VI 9 AND IP 5

Results: 16

Segregation within a family of two mutant alleles for hexosaminidase A.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 540, doi. 10.1111/j.1399-0004.1976.tb01609.x

By:

Kelly, Thaddeus E.;
Reynolds, Linda W.;
O'Brien, John S.

Publication type:

Article

Lysosomal enzyme levels in human amniotic fluid cells in tissue culture:IV. %A N-acetyl-β-D-glucosaminidase.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 505, doi. 10.1111/j.1399-0004.1976.tb01604.x

By:

Butterworth, J.;
Sutherland, G. R.;
Guy, G. J.;
Bower-Riley, S.;
Bain, A. D.

Publication type:

Article

Cystic fibrosis: A cell culture study on an adult patient population.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 527, doi. 10.1111/j.1399-0004.1976.tb01607.x

By:

Danes, B. Shannon;
Hodson, Margaret E.;
Batten, J.

Publication type:

Article

Natal teeth, patent ductus arteriosus and intestinal pseudo-obstruction: A lethal syndrome in the newborn.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 479, doi. 10.1111/j.1399-0004.1976.tb01600.x

By:

Harris, David J.;
Ashcraft, Keith W.;
Beatty, Eugene C.;
Holder, Thomas M.;
Leonidas, John C.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1976, v. 9, n. 5, p. 544, doi. 10.1111/j.1399-0004.1976.tb01610.x
Publication type:: Article

Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 533, doi. 10.1111/j.1399-0004.1976.tb01608.x

By:

Leroy, J. G.;
O'Brien, J. S.

Publication type:

Article

The genetics of and associated clinical findings in humero-radial synostosis.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 470, doi. 10.1111/j.1399-0004.1976.tb01599.x

By:

Hunter, Alasdair G. W.;
Cox, Diane W.;
Rudd, Noreen L.

Publication type:

Article

Familial carcinoma of the pancreas.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 463, doi. 10.1111/j.1399-0004.1976.tb01598.x

By:

Friedman, J. M.;
Fialkow, Philip J.

Publication type:

Article

Cutis laxa and lamellar ichthyosis in siblings.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 508, doi. 10.1111/j.1399-0004.1976.tb01605.x

By:

Kaye, Qlia I.;
Esterly, Nancy B.;
Bocth, Carol W.

Publication type:

Article

Trisomy of chromosome 20.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 449, doi. 10.1111/j.1399-0004.1976.tb01595.x

By:

Pan, Sylvia F.;
Fatora, S. Robert;
Haas, Joel E.;
Steele, Mark W.

Publication type:

Article

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β-galactosidase deficiency.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 495, doi. 10.1111/j.1399-0004.1976.tb01603.x

By:

O'Brien, John S.;
Gugler, E.;
Giedion, A.;
Wiessmann, U.;
Herschkowitz1, N.;
Meier, C.;
Leroy, J.

Publication type:

Article

Congenital generalized fibromatosis: an autosomal recessive condition?

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 488, doi. 10.1111/j.1399-0004.1976.tb01602.x

By:

Baird, Patricia A.;
Worth, Ann J.

Publication type:

Article

An anomaly in the inheritance of haptoglobin types in Down's syndrome: A study of mother-child pairs.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 459, doi. 10.1111/j.1399-0004.1976.tb01597.x

By:

Brackenridge, C. J.;
Pitt, D. B.

Publication type:

Article

Analbuminemia in an American Indian girl.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 513, doi. 10.1111/j.1399-0004.1976.tb01606.x

By:

Boman, H.;
Hermodson, M.;
Hammond, C. A.;
Motulsky, A. G.

Publication type:

Article

Clinical diagnosis of Down's syndrome.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 483, doi. 10.1111/j.1399-0004.1976.tb01601.x

By:

Jackson, J. F.;
III, E. R. North;
Thomas, J. G.

Publication type:

Article

An extra small metacentric chromosome identified as a deleted chromosome No. 17.

Published in:

Clinical Genetics, 1976, v. 9, n. 5, p. 454, doi. 10.1111/j.1399-0004.1976.tb01596.x

By:

Palutke, Waldemar;
Chen, Harold;
Woolley, Paul;
Espiritu, Ceres;
Vogel, H. Lauren;
Gohle, Norma;
Tyrkus, Michael

Publication type:

Article