Works matching IS 00099163 AND DT 1986 AND VI 30 AND IP 4

Results: 20

Congenital cutis laxa.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 345, doi. 10.1111/j.1399-0004.1986.tb00618.x

By:

Rogers, John;
Danks, David

Publication type:

Article

A study into possible deviation from the Hardy-Weinberg equilibrium by the alleles of the hypervariable sequence in the region of the human insulin gene.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 293, doi. 10.1111/j.1399-0004.1986.tb00609.x

By:

Hubbard, A. L.;
Clayton, J. F.

Publication type:

Article

Oto-Palato-Digital syndrome in four generations of a larqe family.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 338, doi. 10.1111/j.1399-0004.1986.tb00617.x

By:

Pazzaglia, Uco E.;
Beluffi, Giampiero

Publication type:

Article

St. Helena familial genu valgum.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 309, doi. 10.1111/j.1399-0004.1986.tb00612.x

By:

Beighton, P.;
Myers, H. S.;
Aldridge, S. J.;
Sedgewick, J.;
Eickhoff, S.

Publication type:

Article

In defence of partial trisomy.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 345, doi. 10.1111/j.1399-0004.1986.tb00619.x

By:

Gardner, R.J.M.

Publication type:

Article

A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 315, doi. 10.1111/j.1399-0004.1986.tb00613.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Dereymaeker, A.;
Hoefnagels, M.;
Heremans, G.;
Marien, J.;
Berghe, H. VAN DEN

Publication type:

Article

High-resolution cytogenetic studies in patients with Prader-Willi syndrome.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 241, doi. 10.1111/j.1399-0004.1986.tb00603.x

By:

Takano, Takako;
Nakagome, Yasuo;
Nagafuchi, Shigeo;
Tanaka, Fumihiko;
Nakamura, Yasuhide;
Nagano, Tetsu;
Tanae, Ayako;
Hibi, Itsuro

Publication type:

Article

Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 285, doi. 10.1111/j.1399-0004.1986.tb00608.x

By:

Schroeder, H. W.;
Forbes, S.;
Mack, L.;
Davis, S.;
Norwood, T. H.

Publication type:

Article

Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 249, doi. 10.1111/j.1399-0004.1986.tb00604.x

By:

Goonewardena, P.;
Gustavson, K.-H.;
Holmgren, G.;
Tolun, A.;
Chotai, J.;
Johnsen, E.;
Pettersson, U.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1986, v. 30, n. 4, p. 350, doi. 10.1111/j.1399-0004.1986.tb00622.x
Publication type:: Article

Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 347, doi. 10.1111/j.1399-0004.1986.tb00621.x

By:

Bakker, E.;
Pearson, P. L.

Publication type:

Article

Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 255, doi. 10.1111/j.1399-0004.1986.tb00605.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Buttiens, M.;
Marien, P.;
Berghe, H. VAN DEN

Publication type:

Article

The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 302, doi. 10.1111/j.1399-0004.1986.tb00611.x

By:

Sanguinetti, N.;
Marsh, Jane;
Jackson, Marie;
Fensom, A. H.;
Warren, R. C.;
Rodeck, C. H.

Publication type:

Article

An asymmetric type of chondrodysplasia in an adult male.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 324, doi. 10.1111/j.1399-0004.1986.tb00614.x

By:

Fryns, J. P.;
Berghe, H. VAN DEN

Publication type:

Article

Pyknoachondrogenesis: An association of skeletal defects resembling achondrogenesis with generalized bone sclerosis. A new condition?

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 335, doi. 10.1111/j.1399-0004.1986.tb00616.x

By:

Camera, Gianni;
Giordano, Francesco;
Mastroiacovo, Pierpaolo

Publication type:

Article

Inbreeding and schizophrenia.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 261, doi. 10.1111/j.1399-0004.1986.tb00606.x

By:

Saugstad, L.;
ØDegård, Ø.

Publication type:

Article

Fragile X; experience of a laboratory.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 346, doi. 10.1111/j.1399-0004.1986.tb00620.x

By:

Soudek, D.

Publication type:

Article

Effect of sibship position on reproductive behavior of couples after the birth of a genetically handicapped child.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 328, doi. 10.1111/j.1399-0004.1986.tb00615.x

By:

Steele, M. W.;
Rosser, L.;
Rodnan, J. B.;
Bryce, M.

Publication type:

Article

Klinefelter's syndrome in Sardinia.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 276, doi. 10.1111/j.1399-0004.1986.tb00607.x

By:

Filippi, G.

Publication type:

Article

First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α-glucosidase in chorionic villous biopsy using antibodies.

Published in:

Clinical Genetics, 1986, v. 30, n. 4, p. 298, doi. 10.1111/j.1399-0004.1986.tb00610.x

By:

Grubisic, A.;
Shin, Y. S.;
Meyer, W.;
Endres, W.;
Becker, U.;
Wischerath, H.

Publication type:

Article