Works matching IS 00099163 AND DT 1978 AND VI 13 AND IP 2

Results: 15

A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 154, doi. 10.1111/j.1399-0004.1978.tb04243.x

By:

Aguilar, Lydia;
Lisker, Rubén;
Hernández-Peniche, J.;
Martínez-Villar, C.

Publication type:

Article

Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 176, doi. 10.1111/j.1399-0004.1978.tb04248.x

By:

Larsen, I. Frøyshov;
Hansen, E.;
Berg, K.

Publication type:

Article

Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 171, doi. 10.1111/j.1399-0004.1978.tb04247.x

By:

Wharton, Charles H.;
Berry, Helen K.;
Bofinger, Mary K.

Publication type:

Article

Humero-radial synostosis.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 169, doi. 10.1111/j.1399-0004.1978.tb04246.x

By:

Surana, Rawatmal B.;
Sinkford, Stanley M.

Publication type:

Article

Osteopathia striata with cranial sclerosis. An autosomal dominant entity.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 201, doi. 10.1111/j.1399-0004.1978.tb04250.x

By:

Horan, F. T.;
Beighton, P. H.

Publication type:

Article

Double pre-ß lipoprotein in ischaemic heart disease.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 233, doi. 10.1111/j.1399-0004.1978.tb04255.x

By:

Postle, A. D.;
Darmady, J. M.;
Siggers, D. C.

Publication type:

Article

Amniotic fluid cell mosaicism for presumptive trisomy 20.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 164, doi. 10.1111/j.1399-0004.1978.tb04245.x

By:

Rodriguhz, M. L.;
Luthy, D.;
Hall, J. G.;
Norwood, T. H.;
Hoehn, H.

Publication type:

Article

Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 145, doi. 10.1111/j.1399-0004.1978.tb04242.x

By:

Wenger, David A.;
Clark, Cameron;
Sattler, Martha;
Wharton, Candace

Publication type:

Article

Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 237, doi. 10.1111/j.1399-0004.1978.tb04256.x

By:

Hongell, Karin;
Knuutila, Sakari;
Westermarck, Thomas

Publication type:

Article

Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 159, doi. 10.1111/j.1399-0004.1978.tb04244.x

By:

Vogel, Walther;
Back, Elke;
Imm, Winfried

Publication type:

Article

Cystic fibrosis liver sialyltransferase.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 207, doi. 10.1111/j.1399-0004.1978.tb04251.x

By:

Alhadeff, Jack A.;
Cimino, George

Publication type:

Article

Observations of ridge appearances in a normal population and in Down syndrome patients (21-trisomy) using the scanning electron microscope: Preliminary report.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 229, doi. 10.1111/j.1399-0004.1978.tb04254.x

By:

Shiono, Hiroshi;
Muraoka, Shigeru;
Kazama, Hishashi;
Kadowaki, Jun-ichi

Publication type:

Article

Fine structure alterations of elastic fibers in pseudoxanthoma elasticum.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 213, doi. 10.1111/j.1399-0004.1978.tb04252.x

By:

Ross, Russell;
Fialkow, Philip J.;
Altman, Lawrence K.

Publication type:

Article

Prenatal diagnosis of 5p-.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 224, doi. 10.1111/j.1399-0004.1978.tb04253.x

By:

David, Karen;
Kaffe, Sara;
Strauss, Lotte;
Hsu, Lillian Y. F.;
Serotkin, Andrea;
Hirschhorn, Kurt

Publication type:

Article

Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction.

Published in:

Clinical Genetics, 1978, v. 13, n. 2, p. 190, doi. 10.1111/j.1399-0004.1978.tb04249.x

By:

Berg, Kark;
Larsen, Ingegerd Frøyshov;
Hansen, Egill

Publication type:

Article