Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 4

Results: 13

The Charcot-Marie-Tooth syndrome: perceptions of disability and projected use of DNA diagnostic tests.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 161, doi. 10.1111/j.1399-0004.1992.tb03231.x

By:

MacMillan, John C.;
Harper, Peter S.

Publication type:

Article

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 206, doi. 10.1111/j.1399-0004.1992.tb03239.x

By:

Ghezzi, Monica;
Parenti, Giancarlo;
Franchis, Raffaella;
Farina, Vincenzo;
Leva, Francesco;
Guarino, Alfredo;
Canani, Roberto Berni;
Strisciuglio, Pietro

Publication type:

Article

Clinical, cytogenetic and molecular investigations in three patients with Wolf-Hirschhorn syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 201, doi. 10.1111/j.1399-0004.1992.tb03238.x

By:

Thies, Ulrike;
Back, Elke;
Wolff, Gerhard;
Schroeder-Kurth, Traute;
Hager, Hans-Dieter;
Schröder, Kirsten

Publication type:

Article

Aminoacidopathies among institutionalised mentally retarded in Kuwait.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 212, doi. 10.1111/j.1399-0004.1992.tb03241.x

By:

Yadav, G.;
Farag, T. I.;
Awadi, S. A. Al;
Sam, T.;
Marafie, M. J.;
Bastaki, L.;
Khalifa, M. Y. El;
Kasrawi, B.;
Wahba, R. A.

Publication type:

Article

Ring chromosome 22 and neurofibromatosis.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 171, doi. 10.1111/j.1399-0004.1992.tb03233.x

By:

Tommerup, N.;
Warburg, M.;
Gieselmann, V.;
Hansen, B. R.;
Koch, J.;
Petersen, G. B.

Publication type:

Article

DNA polymorphisms of the apolipoprotein B gene in Chinese coronary artery disease patients.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 164, doi. 10.1111/j.1399-0004.1992.tb03232.x

By:

Saha, N.;
Tong, M. C.;
Tay, J. S. H.;
Jeyaseelan, K.;
Humphries, S. E.

Publication type:

Article

DNA probe technology: implications for service planning in Britain.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 186, doi. 10.1111/j.1399-0004.1992.tb03235.x

By:

Rona, R. J.;
Swan, A. V.;
Beech, R.;
Wilson, D. M.;
Kavanagh, F. B.;
Brown, C.;
Axtell, C.;
Mandalia, S.

Publication type:

Article

Digito-reno-cerebral syndrome: confirmation of Eronen syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 196, doi. 10.1111/j.1399-0004.1992.tb03236.x

By:

Merrer, M.;
David, A.;
Goutieres, F.;
Briard, M. L.

Publication type:

Article

Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 178, doi. 10.1111/j.1399-0004.1992.tb03234.x

By:

Stengel-Rutkowski, S.;
Lohse, K.;
Herzog, C.;
Apacik, C.;
Couturier, J.;
Albert, A.;
Belohradsky, B.

Publication type:

Article

Nucleotide sequence and PCR-amplification of a polymorphic Mbol site in human DNA marker D4S95 linked to the Huntington disease locus.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 210, doi. 10.1111/j.1399-0004.1992.tb03240.x

By:

Nørremølle, Anne;
Sørensen, Sven Asger;
Arctander, Peter

Publication type:

Article

Prenatal prediction of cystic fibrosis in a mother homozygous for the ΔF508 mutation.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 214, doi. 10.1111/j.1399-0004.1992.tb03243.x

By:

Dahl, Niklas;
Kollberg, Hans

Publication type:

Article

Autosomal inheritance of 'senile' retinitis pigmentosa. A report of a family with consanguinity.

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 199, doi. 10.1111/j.1399-0004.1992.tb03237.x

By:

Bonneau, Dominique;
Kaplan, Josseline;
Girard, Georges;
Dufier, Jean-Louis

Publication type:

Article

Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG).

Published in:

Clinical Genetics, 1992, v. 42, n. 4, p. 213, doi. 10.1111/j.1399-0004.1992.tb03242.x

By:

Toledo, Sergio P. A.

Publication type:

Article