Works matching IS 00099163 AND DT 1984 AND VI 25 AND IP 6

Results: 13

Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 538, doi. 10.1111/j.1399-0004.1984.tb00498.x

By:

Oizumi, Jun;
Ng, Won G.;
Koch, Richard;
Shaw, Kenneth N. F.;
Sweetman, Lawrence;
Velazquez, Antonio;
Donnell, George N.

Publication type:

Article

Interstitial deletion of chromosome 1 (q23-25). Report of a case.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 549, doi. 10.1111/j.1399-0004.1984.tb00500.x

By:

Silengo, Margherita Cirillo;
Davi, G. F.;
Bianco, R.;
Biagioli, M.;
Guala, A.;
Franceschini, P.;
Novelli, G.

Publication type:

Article

Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 500, doi. 10.1111/j.1399-0004.1984.tb00494.x

By:

Stengel-Rutkowski, S.;
Warkotsch, A.;
Schimanek, P.;
Stene, J.

Publication type:

Article

Five generations of t(4;8)(q35;q13) leading to a case of partial 8q trisomy with consideration of potential pregnancy outcomes from translocation carriers.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 522, doi. 10.1111/j.1399-0004.1984.tb00495.x

By:

Young, Robert S.;
Hansen, Kathryn L.;
Khodr, Gabriel S.

Publication type:

Article

Asymmetric skeletal anomalies in siblings.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 533, doi. 10.1111/j.1399-0004.1984.tb00497.x

By:

Stanley, Wayne S.;
Jr, Mason Barr;
Hensinger, Robert;
Ruby, Stephen G.;
Dyke, Daniel L. Van;
Weiss, Lester

Publication type:

Article

Fourth International Conference on Environmental Mutagens.

Published in:: Clinical Genetics, 1984, v. 25, n. 6, p. 555, doi. 10.1111/j.1399-0004.1984.tb00502.x
Publication type:: Article

The use of structured scenarios in genetic counselling.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 485, doi. 10.1111/j.1399-0004.1984.tb00491.x

By:

Arnold, J. R.;
Winsor, E. J. T.

Publication type:

Article

Alpha-1-antitrypsin types and rheumatoid arthritis.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 496, doi. 10.1111/j.1399-0004.1984.tb00493.x

By:

Beckman, G.;
Beckman, L.;
Bjelle, A.;
Dahlqvist, S. Rantapää

Publication type:

Article

Trisomy 7 and Potter syndrome.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 543, doi. 10.1111/j.1399-0004.1984.tb00499.x

By:

Pflueger, Solveig M. V.;
Jr, Charles I. Scott;
Moore, Charleen M.

Publication type:

Article

Is the Pi.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 491, doi. 10.1111/j.1399-0004.1984.tb00492.x

By:

Beckman, Gunhild;
Stjernberg, Nils L.;
Eklund, Anders

Publication type:

Article

Dermal changes in Ehlers-Danlos syndrome.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 477, doi. 10.1111/j.1399-0004.1984.tb00490.x

By:

Kobayasi, Takasi;
Oguchi, Motoi;
Asboe-Hansen, Gustav

Publication type:

Article

Alternative explanations for recurrent achondroplasia in siblings of normal parents.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 553, doi. 10.1111/j.1399-0004.1984.tb00501.x

By:

Hoo, Joe J.

Publication type:

Article

Renal agenesis as a diagnostic feature of the crypthophthalmos-syndactyly syndrome.

Published in:

Clinical Genetics, 1984, v. 25, n. 6, p. 528, doi. 10.1111/j.1399-0004.1984.tb00496.x

By:

Lurie, I. W.;
Cherstvoy, E. D.

Publication type:

Article