Works matching IS 00099163 AND DT 1986 AND VI 29 AND IP 3

Results: 16

DA/DAPI pattern of marker chromosome: cytogenetics of cat eye syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 265, doi. 10.1111/j.1399-0004.1986.tb00825.x

By:

Hoo, J. J.

Publication type:

Article

Osteoporosis-pseudoglioma syndrome.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 263, doi. 10.1111/j.1399-0004.1986.tb00823.x

By:

Beighton, Peter

Publication type:

Article

Copper-measurement in a muscle-biopsy. A possible method for postmortem diagnosis of Menkes disease.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 258, doi. 10.1111/j.1399-0004.1986.tb00821.x

By:

TØNNESEN, T.;
Müller-Schauenburg, G.;
Damsgaard, E.;
Horn, N.

Publication type:

Article

Familial transmission of a non-Robertsonian translocation dicentric.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 246, doi. 10.1111/j.1399-0004.1986.tb00819.x

By:

Howard, P. J.;
Berry, A. C.

Publication type:

Article

27th Annual Short Course in Medical and Experimental Genetics.

Published in:: Clinical Genetics, 1986, v. 29, n. 3, p. 268, doi. 10.1111/j.1399-0004.1986.tb00826.x
Publication type:: Article

High resolution pattern of an inverted duplication (15).

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 241, doi. 10.1111/j.1399-0004.1986.tb00818.x

By:

HOO, J. J.

Publication type:

Article

Genetic control over fragile X chromosome expression.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 191, doi. 10.1111/j.1399-0004.1986.tb00811.x

By:

Hecht, Frederick;
Fryns, Jean Pierre;
Vlietinck, Robert F.;
Berghe, Herman Van Den

Publication type:

Article

Proximal duplications of chromosome 15: clinical dilemmas.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 234, doi. 10.1111/j.1399-0004.1986.tb00817.x

By:

Hood, O. J.;
Rouse, Bobbye M.;
Lockhart, L. H.;
Bodensteiner, J. B.

Publication type:

Article

Number of loci responsible for the inheritance of high and low activity of paraoxonase.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 216, doi. 10.1111/j.1399-0004.1986.tb00815.x

By:

Nielsen, Arne;
Eiberg, Hans;
Mohr, Jan

Publication type:

Article

α.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 211, doi. 10.1111/j.1399-0004.1986.tb00814.x

By:

Klasen, E. C.;
Biemond, I.;
Laros, C. D.

Publication type:

Article

Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13).

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 251, doi. 10.1111/j.1399-0004.1986.tb00820.x

By:

Leschot, N. J.;
Velden, J. V.D.;
Marinkovic-Ilsen, A.;
Darling, S. M.;
Nijenhuis, L. E.

Publication type:

Article

The Cowden syndrome: a clinical and genetic study in 21 patients.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 222, doi. 10.1111/j.1399-0004.1986.tb00816.x

By:

Starink, Th. M.;
Veen, J. P. W. van der;
Arwert, F.;
Waal, L. P. de;
Lange, G. G.de;
Gille, J. J. P.;
Eriksson, A. W.

Publication type:

Article

Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 262, doi. 10.1111/j.1399-0004.1986.tb00822.x

By:

Frontali, M.;
Dallapiccola, B.

Publication type:

Article

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 204, doi. 10.1111/j.1399-0004.1986.tb00813.x

By:

Stoll, C.;
Roth, M-P.;
Dott, B.;
Bigel, P.

Publication type:

Article

Determination of cholinesterase and acetylcholinesterase in amniotic fluid.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 196, doi. 10.1111/j.1399-0004.1986.tb00812.x

By:

Elejalde, B. Rafael;
Peck, Gregory;
Elejalde, Maria Mercedes de

Publication type:

Article

On the nosology of the Cornelia de Lange and Coffin-Siris syndromes.

Published in:

Clinical Genetics, 1986, v. 29, n. 3, p. 263, doi. 10.1111/j.1399-0004.1986.tb00824.x

By:

Fryns, Jean-Pierre

Publication type:

Article