Works matching IS 00099163 AND DT 1994 AND VI 46 AND IP 2

Results: 12

Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 161, doi. 10.1111/j.1399-0004.1994.tb04218.x

By:

Plissart, L.;
Borghgraef, M.;
Volcke, Ph.;
Berghe, H.;
Fryns, J. P.

Publication type:

Article

Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 187, doi. 10.1111/j.1399-0004.1994.tb04222.x

By:

Franke, U. C.;
Scambler, P. J.;
Löffler, C.;
Löns, P.;
Hanefeld, F.;
Zoll, B.;
Hansman, I.

Publication type:

Article

The influence of genetic counselling in the era of DNA testing on knowledge, reproductive intentions and psychological wellbeing.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 198, doi. 10.1111/j.1399-0004.1994.tb04224.x

By:

Rona, R. J.;
Beech, R.;
Mandalia, S.;
Donnai, D.;
Kingston, H.;
Harris, R.;
Wilson, O.;
Axtell, C.;
Swan, A. V.;
Kavanagh, F.

Publication type:

Article

A Bgl I polymorphism in the human elastin gene (ELN).

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 212, doi. 10.1111/j.1399-0004.1994.tb04227.x

By:

Raybould, M. C.;
Birley, A. J.;
Hulten, M.

Publication type:

Article

Microcephaly with large anterior fontanelle, generalized convulsions, micropenis, and distinct anomalies of the hands and feet. Another example of Wiedemann syndrome?

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 205, doi. 10.1111/j.1399-0004.1994.tb04225.x

By:

Nevin, N. C.;
Stewart, F. J.;
Corkey, C. W. B.;
Bell, B. A.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1994, v. 46, n. 2, p. 216, doi. 10.1111/j.1399-0004.1994.tb04229.x
Publication type:: Article

Osteoarthropathia psoriatica of one leg: a manifestation of somatic mosaicism?

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 193, doi. 10.1111/j.1399-0004.1994.tb04223.x

By:

Holzmann, Hans;
Schmitt, Markus;
Happle, Rudolf;
Kaltwasser, Peter;
Hör, Gustav

Publication type:

Article

Diphallus and associated anomalies with balanced autosomal chromosomal translocation.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 209, doi. 10.1111/j.1399-0004.1994.tb04226.x

By:

Karna, Padmani;
Kapur, Saroj

Publication type:

Article

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 168, doi. 10.1111/j.1399-0004.1994.tb04219.x

By:

Elliott, Margaret;
Bayly, Rosemary;
Cole, Trevor;
Temple, I. Karen;
Maher, Eamonn R.

Publication type:

Article

Sister chromatid exchange in families with Angelman or Prader-Willi syndrome.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 181, doi. 10.1111/j.1399-0004.1994.tb04221.x

By:

Webb, Tessa

Publication type:

Article

An alanine.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 214, doi. 10.1111/j.1399-0004.1994.tb04228.x

By:

Jensen, H. K.;
Jensen, L. G.;
Hansen, P. S.;
Petersen, L. S.;
Gerdes, L. U.;
Boiund, L.;
Færgeman, O.;
Gregersen, N.

Publication type:

Article

Predictive testing for Huntington disease: social characteristics and knowledge of applicants, attitudes to the test procedure and decisions made after testing.

Published in:

Clinical Genetics, 1994, v. 46, n. 2, p. 175, doi. 10.1111/j.1399-0004.1994.tb04220.x

By:

Holloway, Susan;
Mennie, Moira;
Croshie, Aileen;
Smith, Brian;
Raeburn, Sandy;
Dinwoodie, Doreen;
Wright, Alan;
May, Heather;
Calder, Kathleen;
Barron, Lilias;
Brock, David J. H.

Publication type:

Article