Works matching IS 00099163 AND DT 1979 AND VI 16 AND IP 5

Results: 13

Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 311, doi. 10.1111/j.1399-0004.1979.tb01008.x

By:

Benson, P. F.;
Brandt, N. J.;
Christensen, E.;
Fensom, A. H.

Publication type:

Article

Lp(a) phenotypes, other lipoprotein parameters, and a family history of coronary heart disease in middle-aged males.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 347, doi. 10.1111/j.1399-0004.1979.tb01014.x

By:

Berg, Kåre;
Dahlén, Gosta;
Bórresen, Anne-Lise

Publication type:

Article

Inheritance of microtia and aural atresia in a family with five affected members.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 331, doi. 10.1111/j.1399-0004.1979.tb01011.x

By:

Zankl, M.;
Zang, K. D.

Publication type:

Article

Heterozygote detection in glucose-6-phosphate dehydrogenase deficiency: limitation of hair follicle analysis.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 353, doi. 10.1111/j.1399-0004.1979.tb01015.x

By:

Vermorken, A. J. M.;
Spierenburg, G. Th.;
Bennekom, C. A. van;
Bruyn, C. H. M. M. de;
Oei, T. L.;
Staal, G. E. J.;
Geerdink, R. A.

Publication type:

Article

Fanconi's anaemia associated with haemophilia A.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 364, doi. 10.1111/j.1399-0004.1979.tb01017.x

By:

Ljung, Rolf;
Holmberg, Lars;
Nilsson, Karl-Olof;
Thilén, Astrid

Publication type:

Article

A distinct variant of the Ehlers-Danlos syndrome.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 335, doi. 10.1111/j.1399-0004.1979.tb01012.x

By:

Hernández, A.;
Aguirre-Negrete, M. G.;
Ramírez-Soltero, S.;
González-Mendoza, A.;
Martínez, R. MartínezY;
Velázquez-Cabrera, A.;
Cantú, J. M.

Publication type:

Article

Lumbar kyphosis in Hunter's disease (MPS II).

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 317, doi. 10.1111/j.1399-0004.1979.tb01009.x

By:

Benson, P. F.;
Button, L. R.;
Fensom, A. H.;
Dean, M. F.

Publication type:

Article

Human amniotic fluid CX-L-fucosidase.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 357, doi. 10.1111/j.1399-0004.1979.tb01016.x

By:

Alhadeff, Jack A.;
Andrews-Smtth, Grai L.

Publication type:

Article

An autosomal dominantly inherited syndrome of facial asymmetry, esotropia, amblyopia, and submucous cleft palate (Bencze syndrome).

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 301, doi. 10.1111/j.1399-0004.1979.tb01006.x

By:

Kurnit1, David;
Hall, Judith G.;
Shurtleff, David B.;
Jr., M. Michael Cohen

Publication type:

Article

Neuraminidase deficiency in the original patient with the Goldberg Syndrome.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 323, doi. 10.1111/j.1399-0004.1979.tb01010.x

By:

Thomas, George H.;
Goldberg, Morton F.;
Miller, Carol S.;
Reynolds, Linda W.

Publication type:

Article

Phenotypic variation in two patients with a ring chromosome 22.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 305, doi. 10.1111/j.1399-0004.1979.tb01007.x

By:

FUNDERBURK, S. J.;
SPARKES, R. S.;
KLISAK, I.

Publication type:

Article

Genetic basis of acquired C4 deficiency.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 297, doi. 10.1111/j.1399-0004.1979.tb01005.x

By:

Cream, J. J.;
Olaisen, B.;
Teisberg, P.;
Soler, A. V.;
Thompson, R. A.

Publication type:

Article

Interstitial deletion 13q33 resulting from maternal insertional translocation.

Published in:

Clinical Genetics, 1979, v. 16, n. 5, p. 340, doi. 10.1111/j.1399-0004.1979.tb01013.x

By:

Emanuel, B. S.;
Zackai, E. H.;
Moreau, L.;
Coates, P.;
Orrechio, E.

Publication type:

Article