Works matching IS 00099163 AND DT 1993 AND VI 44 AND IP 6

Results: 12

Twins and their mildly affected mother with Weaver syndrome.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 338, doi. 10.1111/j.1399-0004.1993.tb03912.x

By:

Dumić, M.;
Vuković, J.;
Cvitković, M.;
Medica, I.

Publication type:

Article

Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 281, doi. 10.1111/j.1399-0004.1993.tb03901.x

By:

Hanssen, A. M. N.;
Werquin, H.;
Suys, E.;
Fryns, J. P.

Publication type:

Article

Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and myocardial infarction.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 292, doi. 10.1111/j.1399-0004.1993.tb03903.x

By:

Bøhn, M.;
Berge, K. E.;
Bakken, A.;
Erikssen, J.;
Berg, K.

Publication type:

Article

Adenine for guanine substitution - pairs 5' to the apolipoprotein (APO) A4 gene: relation with hgh density lipoprotein cholesterol and APO A-I concentrations.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 307, doi. 10.1111/j.1399-0004.1993.tb03906.x

By:

Civeira, Fernando;
Pocovi, Miguel;
Cenarro, Ana;
Garces, Carmen;
Ordovas, Jose M.

Publication type:

Article

Disease profile of 400 institutionalized mentally retarded patients in Kuwait.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 329, doi. 10.1111/j.1399-0004.1993.tb03910.x

By:

Farag, T. I.;
Al-Awadi, S. A.;
El-Badramary, M. H.;
Aref, M. A.;
Kasrawi, B.;
Murthy, D. S. Krishna;
El-Khalifa, M. Y.;
Yadav, G.;
Marafie, M. J.;
Bastaki, L.;
Wahba, R. A.;
Mohammed, F. M.;
Hassan, S. Abul;
Redha, A. A.;
Redha, M. A.;
Al-Aboud, H.;
Al-Hijji, S.;
Al-Dighashem, D.;
Al-Hashash, N.;
Al-Jeryan, L.

Publication type:

Article

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 320, doi. 10.1111/j.1399-0004.1993.tb03908.x

By:

Chabás, A.;
Castellvi, S.;
Bayés, M.;
Balcells, S.;
Grinberg, D.;
Vilageliu, Ll.;
Marfany, G.;
Lissens, W.;
Gonzàlez-Duarte, R.

Publication type:

Article

Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 302, doi. 10.1111/j.1399-0004.1993.tb03905.x

By:

Itoh, Kohji;
Kotani, Masaharu;
Tai, Tadashi;
Suzuki, Hiroshi;
Utsunomiya, Toru;
Inoue, Hisako;
Yamada, Hideo;
Sakuraba, Hitoshi;
Suzuki, Yoshiyuki

Publication type:

Article

A mild form of mucolipidosis type III in four Baluch siblings.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 313, doi. 10.1111/j.1399-0004.1993.tb03907.x

By:

Ward, Chandra;
Singh, Rashmi;
Slade, Christina;
Fensom, A. H.;
Fahmy, A.;
Semrin, A.;
Sjövall, A.;
Talat, A.;
Hasilik, A.;
Klein, I.;
Benson, P. F.

Publication type:

Article

11q trisomy detected by fluorescence in situ hybridization.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 324, doi. 10.1111/j.1399-0004.1993.tb03909.x

By:

Takano, Takako;
Yamanouchi, Yasuko;
Kawashima, Shoko;
Date, Masatsune;
Hashira, Shintaro;
Kida, Mitsushiro;
Abe, Toshiaki;
Nakahori, Yutaka;
Nakagome, Yasuo

Publication type:

Article

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1).

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 335, doi. 10.1111/j.1399-0004.1993.tb03911.x

By:

Robin, Nathaniel H.;
Magnusson, Mark;
McDonald-McGinn, Donna;
Zackai, Elaine H.;
Spinner, Nancy B.

Publication type:

Article

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 287, doi. 10.1111/j.1399-0004.1993.tb03902.x

By:

Dean, John C. S.;
Gray, E. S.;
Stewart, K. N.;
Brown, T.;
Lloyd, D. J.;
Smith, N. C.;
Pope, F. M.

Publication type:

Article

Insertion /deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction.

Published in:

Clinical Genetics, 1993, v. 44, n. 6, p. 298, doi. 10.1111/j.1399-0004.1993.tb03904.x

By:

Bøhn, M.;
Berge, K. E.;
Bakken, A.;
Erikssen, J.;
Berg, K.

Publication type:

Article