Works matching IS 00099163 AND DT 1991 AND VI 40 AND IP 4

Results: 12

Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 283, doi. 10.1111/j.1399-0004.1991.tb03097.x

By:

Curtis, Diana;
Blakemore, Alexandra I. F.;
Engel, Paul C.;
Macgregor, Donald;
Besley, Guy;
Kolvraa, Steen;
Gregersen, Niels

Publication type:

Article

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 287, doi. 10.1111/j.1399-0004.1991.tb03098.x

By:

Turco, Alberto;
Peissel, Bernard;
Gammaro, Linda;
Maschio, Giuseppe;
Pignatti, Pier Franco

Publication type:

Article

Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada).

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 298, doi. 10.1111/j.1399-0004.1991.tb03099.x

By:

Daigneault, Jocelyne;
Aubin, Gervais;
Simard, Fernand;
Braekeleer, Marc De

Publication type:

Article

Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 312, doi. 10.1111/j.1399-0004.1991.tb03101.x

By:

Sewell, Adrian C.;
Wern, Christine;
Pontz, Bertram F.

Publication type:

Article

Saethre-Chotzen syndrome (ACS III) in four generations.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 271, doi. 10.1111/j.1399-0004.1991.tb03095.x

By:

Niemann-Seyde, Susanne C.;
Eber, Stefan W.;
Zoll, Barbara

Publication type:

Article

Ectrodactyly-ectodermal dysplasiaclefting syndrome (EEC): the clinical variation and prenatal diagnosis.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 257, doi. 10.1111/j.1399-0004.1991.tb03093.x

By:

Annerén, G.;
Andersson, T.;
Lindgren, P. G.;
Kjartansson, S.

Publication type:

Article

Usher syndrome: results of a screening program in Colombia.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 304, doi. 10.1111/j.1399-0004.1991.tb03100.x

By:

Tamayo, Marta L.;
Bernal, Jaime E.;
Tamayo, Gustavo E.;
Frias, Jaime L.;
Alvira, Gustavo;
Vergara, Oscar;
Rodriguez, Vicente;
Uribe, Jose I.;
Silva, Juan C.

Publication type:

Article

Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3).

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 326, doi. 10.1111/j.1399-0004.1991.tb03103.x

By:

Fahsold, R.;
Rott, H.-D.;
Claussen, U.;
Schmalenberger, B.

Publication type:

Article

Apolipoprotein B polymorphism and altered apolipoprotein B concentrations in Congolese blacks.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 263, doi. 10.1111/j.1399-0004.1991.tb03094.x

By:

Parra, Henri-Joseph;
Martin, F.;
Monard, F.;
Ngangoué, N.;
Copin, N.;
Bard, J. M.;
Qafli, M.;
Dac, N. Vu;
Duriez, P.;
Fruchart, J. C.

Publication type:

Article

Two Japanese cases with aspartylglycosaminuria: clinical and morphological features.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 318, doi. 10.1111/j.1399-0004.1991.tb03102.x

By:

Yoshida, Kunihiro;
Ikeda, Shu-Ichi;
Yanagisawa, Nobuo;
Yamauchi, Toyoaki;
Tsuji, Shoji;
Hirabayashi, Yoshio

Publication type:

Article

Familial Caffey's disease and late recurrence in a child.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 329, doi. 10.1111/j.1399-0004.1991.tb03104.x

By:

Borochowitz, Zvi;
Gozal, David;
Misselevitch, Ines;
Aunallah, Jamal;
Boss, Johanan H.

Publication type:

Article

Influence of serum paraoxonase polymorphism on serum lipids and apolipoproteins.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 277, doi. 10.1111/j.1399-0004.1991.tb03096.x

By:

Saha, N.;
Roy, A. C.;
Teo, S. H.;
Tay, J. S. H.;
Ratnam, S. S.

Publication type:

Article