Works matching IS 00099163 AND DT 1973 AND VI 4 AND IP 3

Results: 22

Retinal aplasia in association with macular coloboma, keratoconus and cataract.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 270, doi. 10.1111/j.1399-0004.1973.tb01154.x

By:

Leighton, D. A.;
Harris, R.

Publication type:

Article

Partial trisomy 21.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 241, doi. 10.1111/j.1399-0004.1973.tb01149.x

By:

Aula, P.;
Leisti, J.;
Koskull, H.

Publication type:

Article

Demonstration of hyper-α-lipoproteinemia in three diabetic patients.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 281, doi. 10.1111/j.1399-0004.1973.tb01157.x

By:

Wille, L. E.;
Aarseth, S.

Publication type:

Article

Fluorescent bodies in amniotic fluid cells.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 252, doi. 10.1111/j.1399-0004.1973.tb01150.x

By:

Nelson, Matilda M.

Publication type:

Article

Metachromatic leukodystrophy:.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 256, doi. 10.1111/j.1399-0004.1973.tb01151.x

By:

Hagen, C. R. van der;
Børresen, Anne-Lise;
Molne, K.;
Oftedal, G.;
Bjøro, K.;
Berg, K.

Publication type:

Article

Autosomal monosomy (45, XX, C-) in a humanembryo with total amelia and further malformations.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 193, doi. 10.1111/j.1399-0004.1973.tb01142.x

By:

Pawlowitzki, I. H.;
Cenani, A.;
Frischbier, H. J.

Publication type:

Article

The Wrinkly Skin Syndrome: A new heritable disorder of connective tissue.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 186, doi. 10.1111/j.1399-0004.1973.tb01141.x

By:

Gazit, E.;
Goodman, R. M.;
Bat-Miriam, M.;
Katznelson;
Rotem, Y.

Publication type:

Article

Two male sibs with uterus and Fallopian tubes. A rare, probably inherited disorder.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 291, doi. 10.1111/j.1399-0004.1973.tb01160.x

By:

Armendares, S.;
Buentello, L.;
Frenk, S.

Publication type:

Article

Distribution of ABO and Le.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 288, doi. 10.1111/j.1399-0004.1973.tb01159.x

By:

Saha, N.

Publication type:

Article

Triploidy 69, XXX in a stillborn girl.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 210, doi. 10.1111/j.1399-0004.1973.tb01144.x

By:

Halbrecht, I.;
Komlos, L.;
Shabtay, F.;
Solomon, M.;
Böök, J. A.

Publication type:

Article

Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 203, doi. 10.1111/j.1399-0004.1973.tb01143.x

By:

Jammes, J.;
Mirhosseini, S. A.;
Holmes, L. B.

Publication type:

Article

Antenatal diagnosis of argininosuccinic aciduria.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 236, doi. 10.1111/j.1399-0004.1973.tb01148.x

By:

Goodman, S. I.;
Mace, J. W.;
Turner, B.;
Garrett, W. J.

Publication type:

Article

Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 173, doi. 10.1111/j.1399-0004.1973.tb01140.x

By:

Meretoja, Jouko

Publication type:

Article

Hereditary angioedema: Report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 229, doi. 10.1111/j.1399-0004.1973.tb01147.x

By:

March, M. De;
Jacot-Guillarmod, H.;
Ressa, T. G.;
Carbonara, A. O.

Publication type:

Article

Phenotypic variation in the popliteal pterygium syndrome.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 220, doi. 10.1111/j.1399-0004.1973.tb01146.x

By:

Bixler, D.;
Poland, C.;
Nance, W. E.

Publication type:

Article

Mass screening newborns for mucopolysaccharidoses.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 260, doi. 10.1111/j.1399-0004.1973.tb01152.x

By:

Sabater, J.;
Villalba, M.;
Maya, A.

Publication type:

Article

Male and female differentiation of the human gonad.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 213, doi. 10.1111/j.1399-0004.1973.tb01145.x

By:

Boczkowski, Krzysztof

Publication type:

Article

Concurrence of myotonic dystrophy and XXY Klinefelter syndrome.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 264, doi. 10.1111/j.1399-0004.1973.tb01153.x

By:

Sparkes, R. S.;
Samec, L.;
Kaplan, S. A.;
Coulson, W. F.

Publication type:

Article

Familial infantile renal tubular acidosis and congenital nerve deaf ness: An autosomal recessive syndrome.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 275, doi. 10.1111/j.1399-0004.1973.tb01155.x

By:

Cohen, T.;
Brand-Auraban, A.;
Karshai, C.;
Jacob, A.;
Gay, I.;
Tsitsianov, J.;
Shapiro, T.;
Jatziv, S.;
Ashkenazi, A.

Publication type:

Article

Determination of Tay-Sachs genotypes in pregnant women.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 286, doi. 10.1111/j.1399-0004.1973.tb01158.x

By:

Navon, R.;
Mark, Z.;
Mashiah, S.;
Padeh, R.

Publication type:

Article

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 297, doi. 10.1111/j.1399-0004.1973.tb01161.x

By:

Aula, P.;
Näntöu, V.;
Laipio, M.-L.;
Autio, S.

Publication type:

Article

Catechol-O-methyltransferase activity in erythrocytes in Down's syndrome.

Published in:

Clinical Genetics, 1973, v. 4, n. 3, p. 279, doi. 10.1111/j.1399-0004.1973.tb01156.x

By:

Gustavson, K.-H.;
Wetterberg, L.;
Bäckström, M.;
Ross, S. B.

Publication type:

Article