Works matching IS 00099163 AND DT 1975 AND VI 7 AND IP 5

Results: 13

Free amino acids in extracts of cultured skin fibroblasts from patients with various amino acid metabolic disorders.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 421, doi. 10.1111/j.1399-0004.1975.tb00352.x

By:

Shih, Vivian E.;
Mandell, Roseann;
Levy, Harvey L.;
Littlefield, John W.

Publication type:

Article

Neonatal neurofibromatosis: unusual manifestations with malignant clinical course.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 388, doi. 10.1111/j.1399-0004.1975.tb00346.x

By:

Apter, Naomi;
Chemke, Juan;
Hurwitz, Nina;
Levin, Stanley

Publication type:

Article

49, XXXXY patient with hemifacial microsomia.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 442, doi. 10.1111/j.1399-0004.1975.tb00355.x

By:

Kushnick, Theodore;
Colondrlllo, Michael

Publication type:

Article

The evaluation of infants with the Zellweger (cerebro-hepato-renal) syndrome.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 413, doi. 10.1111/j.1399-0004.1975.tb00350.x

By:

Gilchrist, Kennedy W.;
Gilbert, Enid F.;
Shahidi, Nasrollah T.;
Opitz, John M.

Publication type:

Article

Absence of differences in platelet dihydroxyphenyIaIanine (DOPA) oxidase polymorphism in health and Duchenne's muscular dystrophy.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 435, doi. 10.1111/j.1399-0004.1975.tb00354.x

By:

Pacold, Ivan;
Morgan, Julie;
Cohen, Louis

Publication type:

Article

A simple combinatorial method for calculating genetic risks.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 361, doi. 10.1111/j.1399-0004.1975.tb00343.x

By:

Maag, U. R.;
Gold, R. J. M.

Publication type:

Article

Thin ribs in neonatal myotonic dystrophy.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 417, doi. 10.1111/j.1399-0004.1975.tb00351.x

By:

Fried, K.;
Pajewski, M.;
Mundel, G.;
Caspi, E.;
Spira, R.

Publication type:

Article

XX males: two new cases.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 394, doi. 10.1111/j.1399-0004.1975.tb00347.x

By:

Yunis, Emilio;
Cruz, Emilia de De La;
Nossa, Marco A.;
Gutierrez, Guillermo

Publication type:

Article

Serum esterases of Icelanders 1. A 'silent' pseudocholinesterase gene in an icelandic family.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 405, doi. 10.1111/j.1399-0004.1975.tb00349.x

By:

Arnason, Alfred;
Jensson, Olafur;
Gudmundsson, Sigurdur

Publication type:

Article

The pathological anatomy of the Smith-Lemli-Opitz syndrome.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 382, doi. 10.1111/j.1399-0004.1975.tb00345.x

By:

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

Publication type:

Article

Familial Kallmann syndrome with unilateral renal aplasia.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 368, doi. 10.1111/j.1399-0004.1975.tb00344.x

By:

Wegenke, J. D.;
Uehling, D. T.;
Wear, J. B.;
Gordon, E. S.;
Bargman, J. G.;
Deacon, J. S. R.;
Herrma, J. P. R.;
Opitz, J. M.

Publication type:

Article

Chromosomal mosaicism in amniotic fluid cell cultures.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 400, doi. 10.1111/j.1399-0004.1975.tb00348.x

By:

Sutherland, Grant R.;
Bowser-Riley, Susan M.;
Bain, A. Douglas

Publication type:

Article

Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.

Published in:

Clinical Genetics, 1975, v. 7, n. 5, p. 426, doi. 10.1111/j.1399-0004.1975.tb00353.x

By:

Neuhäuser, Gerhard;
Opitz, John M.

Publication type:

Article