Works matching IS 00099163 AND DT 1984 AND VI 26 AND IP 2

Results: 14

Male to male transmission of the G syndrome.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 164, doi. 10.1111/j.1399-0004.1984.tb00808.x

By:

Chemke, J.;
Shor, E.;
Ankori-Cohen, H.;
Kazuni, E.

Publication type:

Article

Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 117, doi. 10.1111/j.1399-0004.1984.tb00800.x

By:

García-Sagredo, J. M.;
Lozano, C.;
Ferrando, P.;
Román, C. San

Publication type:

Article

Combined sialidase (neuraminidase) and β-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 139, doi. 10.1111/j.1399-0004.1984.tb00804.x

By:

Loonen, M. C. B.;
Reuser, A. J. J.;
Visser, P.;
Arts, W. F. M.

Publication type:

Article

Selection against genetic defects in semen donors.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 87, doi. 10.1111/j.1399-0004.1984.tb00798.x

By:

Smith, P. E.

Publication type:

Article

A young girl with ring(18) mosaicism: cytogenetic studies and PEP A mapping.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 156, doi. 10.1111/j.1399-0004.1984.tb00806.x

By:

Rocchi, Mariano;
Cigui, Ileana;
Archidiacono, Nicoletta;
Pecile, Vanna;
Porcelli, Giovanni;
Filippi, Giorgio

Publication type:

Article

Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 109, doi. 10.1111/j.1399-0004.1984.tb00799.x

By:

Ginsberg, Henry;
Grabowski, Gregory A.;
Gibson, Joyce Corey;
Fagerstrom, Richard;
Goldblatt, Jack;
Gilbert, Harriet S.;
Desnick, Robert J.

Publication type:

Article

Mandibuloacral dysplasia: a rare progeroid syndrome Two brothers confirm autosomal recessive inheritance.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 133, doi. 10.1111/j.1399-0004.1984.tb00803.x

By:

Pallotta, R.;
Morgese, G.

Publication type:

Article

Chromosome studies on normal males in 16 families with the marker X chromosome.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 166, doi. 10.1111/j.1399-0004.1984.tb00810.x

By:

Venter, P. A.;
Coetzee, D. J.;
Wilmot, J.;
Behari, D.;
Battson, S. A.;
Kritzinger, N.;
Toit, J. L. Du;
Hof, J. Op't

Publication type:

Article

Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 81, doi. 10.1111/j.1399-0004.1984.tb00797.x

By:

Viljoen, D.;
Pearn, J.;
Beighton, P.

Publication type:

Article

Mosaic tetrasomy 21 in a male child.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 150, doi. 10.1111/j.1399-0004.1984.tb00805.x

By:

Kwee, M. L.;
Barth, P. G.;
Arwert, F.;
Madan, K.

Publication type:

Article

Prader-Willi syndrome in Black females.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 161, doi. 10.1111/j.1399-0004.1984.tb00807.x

By:

Golden, Wendy L.;
Hanchett, Jeanne M.;
Breslin, Nancy;
Steele, Mark W.

Publication type:

Article

Fragile 22q13 segregating in a family.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 125, doi. 10.1111/j.1399-0004.1984.tb00801.x

By:

Webb, T.;
Thake, A.

Publication type:

Article

Monosomy X associated with fra(17p12) and 22p-.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 165, doi. 10.1111/j.1399-0004.1984.tb00809.x

By:

Izakovič, Viliam

Publication type:

Article

Genetics of site specific colon cancer: a family study.

Published in:

Clinical Genetics, 1984, v. 26, n. 2, p. 129, doi. 10.1111/j.1399-0004.1984.tb00802.x

By:

Bamezai, R.;
Singh, Gurpreet;
Khanna, N. N.;
Singh, Shamer

Publication type:

Article