Works matching IS 00099163 AND DT 1983 AND VI 23 AND IP 2

Results: 15

Myotonic dystrophy: limited electromyo-graphic abnormalities in 2 definite cases.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 111, doi. 10.1111/j.1399-0004.1983.tb01857.x

By:

Sun, Sallie F.;
Streib, Erich W.

Publication type:

Article

A simplified PKU gene carrier detection test using fasting blood.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 115, doi. 10.1111/j.1399-0004.1983.tb01858.x

By:

Tenenholz, Beverly;
Wenger, Sharon L.;
Breck, Jane;
Steele, Mark W.

Publication type:

Article

Heterogeneity in mucolipidosis II (l-cell disease).

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 155, doi. 10.1111/j.1399-0004.1983.tb01865.x

By:

Okada, Shintaro;
Kato, Tomochika;
Oshima, Toshio;
Yutaka, Tohru;
Yabuuchi, Hyakuji

Publication type:

Article

Infantile lethal neuraminidase deficiency (sialidosis).

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 97, doi. 10.1111/j.1399-0004.1983.tb01855.x

By:

Laver, J.;
Fried, K.;
Beer, S. I.;
Iancu, T. C.;
Heyman, E.;
Bach, G.;
Zeigler, M.

Publication type:

Article

Δ-Aminolevulinatedehydrase: synteny with ABO-AK1-ORM (and assignment to chromosome 9).

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 150, doi. 10.1111/j.1399-0004.1983.tb01864.x

By:

Eiberg, H.;
Mohr, J.;
Nielsen, L. Staub

Publication type:

Article

Genetic aspects of artificial insemination by donor (AID). Indications, surveillance and results.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 132, doi. 10.1111/j.1399-0004.1983.tb01861.x

By:

Cecos, Federation;
Mattei, J. F.;
Marec, B. Le

Publication type:

Article

Fetoscopic photography.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 160, doi. 10.1111/j.1399-0004.1983.tb01866.x

By:

Schwartz, David B.;
Donovan, Debbie

Publication type:

Article

Chromosomal breakage in multiple endocrine adenomatosis (types I and II).

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 143, doi. 10.1111/j.1399-0004.1983.tb01863.x

By:

Gustavson, K.-H.;
Jansson, R.;
Ouberg, K.

Publication type:

Article

Clinical heterogeneity in a sibship with Niemann-Pick disease type C.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 125, doi. 10.1111/j.1399-0004.1983.tb01860.x

By:

Yatziv, S.;
Gershon, Z. Leibovitz-Ben;
Ornoy, A.;
Bach, G.

Publication type:

Article

A study of mental retardation in children in the Island of Hawaii.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 81, doi. 10.1111/j.1399-0004.1983.tb01854.x

By:

Proops, R.;
Mayer, M.;
Jacobs, P. A.

Publication type:

Article

Fetal ABO blood group typing using amniotic fluid.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 120, doi. 10.1111/j.1399-0004.1983.tb01859.x

By:

Teichler-Zallen, Doris;
Doherty, Richard A.

Publication type:

Article

Mixed gonadal dysgenesis and sex chromosome mosaicism with multiple cell lines including structural aberrations of the Y chromosome.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 172, doi. 10.1111/j.1399-0004.1983.tb01868.x

By:

Al-Awadi, S. A.;
Cuschieri, A.;
Farag, T. I.;
Naguib, K.;
Teebi, A. S.;
Issa, M.;
El-Sayed, M.

Publication type:

Article

Monosomy 21 syndrome: Further delineation including clinical, neuropathological, cytogenetic and biochemical studies.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 102, doi. 10.1111/j.1399-0004.1983.tb01856.x

By:

Wisniewski, K.;
Dambska, M.;
Jenkins, E. C.;
Sklower, S.;
Brown, W. T.

Publication type:

Article

Sister chromatid exchange and lym phocyte proliferation in a Down syndrome mosaic.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 139, doi. 10.1111/j.1399-0004.1983.tb01862.x

By:

Heidemann, A.;
Schmalenberger, B.;
Zankl, H.

Publication type:

Article

Interstitial deletion in the long arm of chromosome no. 5.

Published in:

Clinical Genetics, 1983, v. 23, n. 2, p. 167, doi. 10.1111/j.1399-0004.1983.tb01867.x

By:

Harprecht-Beato, W.;
Kaiser, P.;
Steuber, E.;
Reinhard, W.

Publication type:

Article