Works matching IS 00099163 AND DT 1992 AND VI 42 AND IP 6

Results: 12

Choanal atresia in two unrelated patients with the Coffin-Siris syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 320, doi. 10.1111/j.1399-0004.1992.tb03265.x

By:

Jong, G.;
Nelson, M. M.

Publication type:

Article

Screening for the apolipoprotein B-100 arginine.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 302, doi. 10.1111/j.1399-0004.1992.tb03260.x

By:

Feussner, Giso;
Schuster, Herbert

Publication type:

Article

Autosomal recessive gingival fibromatosis with distinctive facies.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 306, doi. 10.1111/j.1399-0004.1992.tb03261.x

By:

Goldblatt, Jack;
Singer, Steven L.

Publication type:

Article

Genotyping of spinal muscular atrophy families with linked DNA probes.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 317, doi. 10.1111/j.1399-0004.1992.tb03264.x

By:

Gennarelli, Massimo;
Melchionda, Salvatore;
Fattorini, Cristina;
Novelli, Giuseppe;
Dallapiccola, Bruno

Publication type:

Article

Reevaluation of the origin of a marker chromosome in a patient with 47,XX,r(13)(p11q34), +mar by molecular cytogenetics.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 323, doi. 10.1111/j.1399-0004.1992.tb03266.x

By:

Cooper, L. F.;
Coss, C. A.;
Jabs, E. W.

Publication type:

Article

Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 309, doi. 10.1111/j.1399-0004.1992.tb03262.x

By:

Restagno, Gabriella;
Garnerone, Simonetta;
Gennaro, Carla;
Ferrone, Marina;
Carbonara, Angelo

Publication type:

Article

The Wolf-Hirschhorn syndrome in fetuses.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 281, doi. 10.1111/j.1399-0004.1992.tb03257.x

By:

Tachdjian, G.;
Fondacci, G.;
Tapla, S.;
Huten, Y.;
Blot, P.;
Nessmann, C.

Publication type:

Article

X-inactivation in girls with Rett syndrome.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 296, doi. 10.1111/j.1399-0004.1992.tb03259.x

By:

Kormann-Bortolotto, M. H.;
Woods, C. G.;
Green, S. H.;
Webb, T.

Publication type:

Article

A Bedouin kindred with 19 piebalds in 5 generations.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 326, doi. 10.1111/j.1399-0004.1992.tb03267.x

By:

Farag, Talaat I.;
El-Ramly, Mahmmoud A.;
Sakr, Mohammed F.

Publication type:

Article

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 314, doi. 10.1111/j.1399-0004.1992.tb03263.x

By:

Fryns, J. P.;
Delooz, J.;
Berghe, H.

Publication type:

Article

A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 288, doi. 10.1111/j.1399-0004.1992.tb03258.x

By:

Rødningen, Olaug K.;
Røshy, Oddveig;
Tonstad, Serena;
Ose, Leiv;
Berg, Kåre;
Leren, Trond P.

Publication type:

Article

Detection of the Pro.

Published in:

Clinical Genetics, 1992, v. 42, n. 6, p. 273, doi. 10.1111/j.1399-0004.1992.tb03256.x

By:

Defesche, J. C.;
Ree, M. A.;
Kastelein, J. J. P.;
Diermen, D. E.;
Janssans, N. W. E.;
Doormaal, J. J.;
Hayden, M. R.

Publication type:

Article