Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 4

Results: 13

Familial occurrence of ring chromosome 15.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 178, doi. 10.1111/j.1399-0004.1992.tb03659.x

By:

Horigome, Y.;
Kondo, I.;
Kuwajima, K.;
Suzuki, T.

Publication type:

Article

Familial Turner syndrome.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 218, doi. 10.1111/j.1399-0004.1992.tb03666.x

By:

Verschraegen-Spae, M-R.;
Dapypare, H.;
Spalaman, F.;
Dhondt, M.;
Paepe, A. Da

Publication type:

Article

Transmission of breast cancer - a controversy resolved.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 211, doi. 10.1111/j.1399-0004.1992.tb03665.x

By:

Iselius, Lenaart;
Littler, Mary;
Morton, Newton

Publication type:

Article

Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 189, doi. 10.1111/j.1399-0004.1992.tb03661.x

By:

Decruyenaere, Marlean;
Evers-Klebooms, Gerry;
Denayer, Lleve;
Berghe, Herman

Publication type:

Article

Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 221, doi. 10.1111/j.1399-0004.1992.tb03667.x

By:

Lin, A. E.;
Doherty, R.;
Lea, D.

Publication type:

Article

Phenotypic discriminants in the Waardenburg syndrome.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 181, doi. 10.1111/j.1399-0004.1992.tb03660.x

By:

Winsbip, Ingrid;
Brighton, Peter

Publication type:

Article

Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetyl-coenzyme-A thiolase.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 202, doi. 10.1111/j.1399-0004.1992.tb03663.x

By:

Walner, Moacir;
Sansavsrlno, Maria Tareza;
Glugliani, Roberto;
Sweetman, Laurence;
Yamaguchl, Seljl;
Fukao, Toshiyukl;
Shlh, Vivian E.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1992, v. 41, n. 4, p. 224, doi. 10.1111/j.1399-0004.1992.tb03669.x
Publication type:: Article

Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 206, doi. 10.1111/j.1399-0004.1992.tb03664.x

By:

Bergeron, Jean;
Normand, Thierry;
Bharucha, Adl;
Murtby, M. R.;
Julien, Pierre;
Gagné, Claude;
Dionne, Carole;
Braekeleer, Marc;
Brun, Daniel;
Hayden, Michael R.;
Luplen, Paul J.

Publication type:

Article

Detection of subtle reciprocal translocations by fluorescence in situ hybridization.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 169, doi. 10.1111/j.1399-0004.1992.tb03657.x

By:

Speleman, Frank;
Roy, Nadine;
Wlegant, Joop;
Verschraegen-Spae, Marie Rose;
Benoit, Yves;
Govaert, Paul;
Goossens, Linde;
Leroy, Jules G.

Publication type:

Article

Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 175, doi. 10.1111/j.1399-0004.1992.tb03658.x

By:

Petit, P.;
Moerman, Ph.;
Fryns, J. P.

Publication type:

Article

Reply to Dr. Lin.

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 223, doi. 10.1111/j.1399-0004.1992.tb03668.x

By:

Legius, Eric;
Fryns, Jean-Pierre

Publication type:

Article

Familial multiple lateral telangiectatic nevi (port-wine stains or nevi flammei).

Published in:

Clinical Genetics, 1992, v. 41, n. 4, p. 197, doi. 10.1111/j.1399-0004.1992.tb03662.x

By:

Pasyk, Krystyna A.

Publication type:

Article