Works matching IS 00099163 AND DT 1988 AND VI 34 AND IP 2

Results: 14

Robertsonian translocation and extra microchromosome.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 140, doi. 10.1111/j.1399-0004.1988.tb02850.x

By:

Waters, J. J.;
Howard, P. J.

Publication type:

Article

First-trimester diagnosis of metachromatic leucodystrophy.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 122, doi. 10.1111/j.1399-0004.1988.tb02847.x

By:

Fensom, A. H.;
Marsh, Jane;
Jackson, Marie;
McGuire, V. Mary;
Vimal, Christina;
Nicolaides, K.;
Sheridan, R.

Publication type:

Article

Genetic counselling in a case of TAR syndrome where the father presented malformations of the feet.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 104, doi. 10.1111/j.1399-0004.1988.tb02844.x

By:

Marec, B.;
Odent, S.;
Bracq, H.;
Roussey, M.;
Gall, E.;
Gandon, Y.

Publication type:

Article

Mild expression of the Pfeiffer syndrome.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 144, doi. 10.1111/j.1399-0004.1988.tb02853.x

By:

Hall, Judith G.

Publication type:

Article

Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 90, doi. 10.1111/j.1399-0004.1988.tb02842.x

By:

Pals, G.;
Eriksson, A. W.;
Pronk, J. C.;
Frants, R. R.;
Klinkenberg-Knol, E. C.;
Bosma, A.;
Westerveld, B. D.;
Taggart, R. T.;
Samloff, I. M.;
Meuwissen, S. G. M.

Publication type:

Article

A genetic-diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 126, doi. 10.1111/j.1399-0004.1988.tb02848.x

By:

Dereymaeker, A. M.;
Fryns, J. P.;
Haegeman, J.;
Deroover, J.;
Berghe, H.

Publication type:

Article

Neural tube defects and omphalocele in trisomy 18.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 98, doi. 10.1111/j.1399-0004.1988.tb02843.x

By:

Moore, Cynthia A.;
Harmon, Joseph P.;
Padilla, Lillie-Mae;
Castro, Virgilio B.;
Weaver, David D.

Publication type:

Article

Are the traits for drug acetylation and oxldation co-inherited?

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 143, doi. 10.1111/j.1399-0004.1988.tb02852.x

By:

ŞardaŞ, Semra;
Karakaya, Ali Esat;
Idle, Jeffrey R.

Publication type:

Article

Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 135, doi. 10.1111/j.1399-0004.1988.tb02849.x

By:

Leschot, Nico J.;
Wilmsen-Linders, Ellen J. M.;
Geijn, Herman P.;
Samsom, Janny F.;
Smit, Leo M. E.

Publication type:

Article

Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 81, doi. 10.1111/j.1399-0004.1988.tb02840.x

By:

Fryns, J.P.;
Dereymaeker, A.M.;
Heremans, G.;
Marien, J.;
Hauwaert, J.;
Turner, G.;
Hockey, A.;
Berghe, H.

Publication type:

Article

Sperm chromosome analysis to assess potential germ cell mosaicism.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 85, doi. 10.1111/j.1399-0004.1988.tb02841.x

By:

Brandriff, B.;
Gordon, L. A.;
Crawford, B. B.;
Schonberg, S. A.;
Golabi, M.;
Charzan, S.;
Golbus, M. S.;
Carrano, A. V.

Publication type:

Article

Familial limb deficiency.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 141, doi. 10.1111/j.1399-0004.1988.tb02851.x

By:

Hoon, Alex;
Hall, Judith G.

Publication type:

Article

Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 116, doi. 10.1111/j.1399-0004.1988.tb02846.x

By:

Sewell, A. C.;
Pontz, B. F.;
Benischek, G.

Publication type:

Article

Genetic counselling in hypomelanosis of Ito: case report and review.

Published in:

Clinical Genetics, 1988, v. 34, n. 2, p. 109, doi. 10.1111/j.1399-0004.1988.tb02845.x

By:

Moss, Celia;
Burn, John

Publication type:

Article