Works matching IS 00099163 AND DT 1987 AND VI 31 AND IP 3

Results: 15

Roberts syndrome and SC phocomelia. A single genetic entity.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 170, doi. 10.1111/j.1399-0004.1987.tb02790.x

By:

Römke, Christiane;
Froster-Iskenius, Ursula;
Heyne, Klaus;
Höhn, Wolfram;
Hof, Marita;
Grzetszczyk, Grzegorz;
Rauskolb, Rüdiger;
Rehder, Helga;
Schwinger, Eberhard

Publication type:

Article

Assignment of the locus order DXS28- DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 192, doi. 10.1111/j.1399-0004.1987.tb02794.x

By:

Nørby, Søren;
Schwartz, Marianne

Publication type:

Article

Cerebellar ataxia and total albinism.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 178, doi. 10.1111/j.1399-0004.1987.tb02791.x

By:

Bamezai, R.;
Husajn, S. A.;
Misra, S.;
Thacker, A. K.

Publication type:

Article

Ichthyosis - Cheek - Eyebrow (ICE) syndrome: a new autosomal dominant disorder.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 137, doi. 10.1111/j.1399-0004.1987.tb02784.x

By:

Sidransky, E.;
Feinstein, A.;
Goodman, R. M.

Publication type:

Article

Cardiovascular complications in the Ehlers-Danlos syndrome with minimal external findings.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 148, doi. 10.1111/j.1399-0004.1987.tb02786.x

By:

Shohet, I.;
Rosenbaum, I.;
Frand, M.;
Duksin, D.;
Engelberg, S.;
Goodman, R. M.

Publication type:

Article

Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 119, doi. 10.1111/j.1399-0004.1987.tb02781.x

By:

Valkova, Grozdana;
Ghenev, Evgheny;
Tzancheva, Maria

Publication type:

Article

Autosomal dominant endosteal hyperostosis.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 161, doi. 10.1111/j.1399-0004.1987.tb02789.x

By:

Perez-Vicente, J. A.;
Castro, E. Rodríguez De;
Lafuente, J.;
Mateo, M. MARTÍN D.;
Giménez-Roldán, S.

Publication type:

Article

Unusual in vivo rearrangements of the Y-chromosome in two males.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 132, doi. 10.1111/j.1399-0004.1987.tb02783.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Lemmens, P.;
Berghe, H. Van den

Publication type:

Article

A new patella syndrome.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 143, doi. 10.1111/j.1399-0004.1987.tb02785.x

By:

Sandhaus, Y. S.;
Ben-Ami, T.;
Chechick, A.;
Goodman, R. M.

Publication type:

Article

Public records and recognition of genetic disease in Scotland.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 125, doi. 10.1111/j.1399-0004.1987.tb02782.x

By:

Collyer, Susan;
Mey, Rhona De

Publication type:

Article

Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 158, doi. 10.1111/j.1399-0004.1987.tb02788.x

By:

FRYNS, J. P.;
Vandenberghe, K.;
Moerman, F.;
Kleczkowska, A.;
Berghe, H. Van den

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1987, v. 31, n. 3, p. 198, doi. 10.1111/j.1399-0004.1987.tb02795.x
Publication type:: Article

An abnormal pattern of amniotic fluid microvillar enzymes signalling fetal cystic fibrosis.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 182, doi. 10.1111/j.1399-0004.1987.tb02792.x

By:

Brock, David J. H.;
Clarke, Hazel A. K.

Publication type:

Article

Technical and biological aspects of pseudomosaicism and mosaicism.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 153, doi. 10.1111/j.1399-0004.1987.tb02787.x

By:

Moller, Päl;
Ormerod, Eli

Publication type:

Article

Major genes of eye color and hair color linked to LU and SE.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 186, doi. 10.1111/j.1399-0004.1987.tb02793.x

By:

ElBERG, H.;
MOHR, J.

Publication type:

Article