Works matching IS 00099163 AND DT 1981 AND VI 20 AND IP 2

Results: 14

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12).

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 130, doi. 10.1111/j.1399-0004.1981.tb01817.x

By:

OORTHUYS, J. W. E.;
SLATER, R. M.;
BARROWCLOUGH, H.;
KLEINE, M. J. K. DE

Publication type:

Article

Development of eight pubertal males with 47,XXY karyotype.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 141, doi. 10.1111/j.1399-0004.1981.tb01819.x

By:

Salbenblatt, James A.;
Bender, Bruce G.;
Puck, Mary H.;
Robinson, Arthur;
Webber, M. Lynn

Publication type:

Article

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 152, doi. 10.1111/j.1399-0004.1981.tb01821.x

By:

Kamp, J. J. P. VAN DE;
Niermeijer, M. F.;
Figura, K. VON;
Giesberts, M. A. H.

Publication type:

Article

Prenatal diagnosis of Krabbe disease.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 79, doi. 10.1111/j.1399-0004.1981.tb01813.x

By:

Vanier, Marie T.;
Svennerholm, Lars;
Månsson, Jan-Eric;
Hakansson, Gunilla;
Bou, André;
Lindsten, Jan

Publication type:

Article

Familial isolated growth hormone deficiency.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 173, doi. 10.1111/j.1399-0004.1981.tb01824.x

By:

Gelderen, H. H. Van;
Hoog, C. E. VAN DER

Publication type:

Article

Genetics of the low density lipoprotein receptor:.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 104, doi. 10.1111/j.1399-0004.1981.tb01815.x

By:

Magnus, Per;
Maartmann-Moe, Kjell;
Golden, Wendy;
Nance, Walter E.;
Berg, Kåre

Publication type:

Article

Muscular anomalies.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 176, doi. 10.1111/j.1399-0004.1981.tb01825.x

By:

Pettersen, James C.;
Bersu, Edward T.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1981, v. 20, n. 2, p. 177, doi. 10.1111/j.1399-0004.1981.tb01826.x
Publication type:: Article

Multiple forms of membrane-bound β-glucosidase in Gaucher's disease.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 161, doi. 10.1111/j.1399-0004.1981.tb01822.x

By:

YAQOOB, MOHAMMED;
CARROLL, MARK

Publication type:

Article

Complex segregation analysis of the Lp(a)/pre-ß.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 147, doi. 10.1111/j.1399-0004.1981.tb01820.x

By:

Iselius, L.;
Dahlén, G.;
Faire, U. DE;
Lundman, T.

Publication type:

Article

Genetics of the low density lipoprotein receptor:.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 113, doi. 10.1111/j.1399-0004.1981.tb01816.x

By:

Maartmann-Moe, Kjell;
Magnus, Per;
Golden, Wendy;
Berg, Kåre

Publication type:

Article

Carrier detection in Sanfilippo syndrome type B: report of six families.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 135, doi. 10.1111/j.1399-0004.1981.tb01818.x

By:

Vance, J. M.;
Conneally, P. M.;
Wappner, R. S.;
Yu, P. L.;
Brandt, I. K.;
Pericak-Vance, M. A.

Publication type:

Article

Calf hypertrophy and asymmetry in female carriers of X-linked Duchenne muscular dystrophy: an over-diagnosed clinical manifestation.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 168, doi. 10.1111/j.1399-0004.1981.tb01823.x

By:

Cavanagh, N. P. C.;
Pkeece, M. A.

Publication type:

Article

Genetics of the low density lipoprotein receptor:.

Published in:

Clinical Genetics, 1981, v. 20, n. 2, p. 90, doi. 10.1111/j.1399-0004.1981.tb01814.x

By:

Maartmann-Moe, Kjell;
Berg-Johnsen, Pal

Publication type:

Article