Works matching IS 00099163 AND DT 1984 AND VI 26 AND IP 5

Results: 22

Diagnosing of chromosome abnormalities in Denmark.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 422, doi. 10.1111/j.1399-0004.1984.tb01082.x

By:

Nielsen, J.;
Videbech, P.

Publication type:

Article

Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 462, doi. 10.1111/j.1399-0004.1984.tb01090.x

By:

DANESINO, C.;
'AZZO, ALESSANDRA;
ARICA, M.;
PODESTA, A. F.;
BELUFFI, G.;
BIANCHI, ELENA

Publication type:

Article

Long arm deletions of the X chromosome and their symptoms: a new case (bp q24) and a short review of the literature.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 433, doi. 10.1111/j.1399-0004.1984.tb01084.x

By:

Kaiser, P.;
Harprecht, W.;
Steuernagel, P.;
Daume, E.

Publication type:

Article

Corrections.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 495, doi. 10.1111/j.1399-0004.1984.tb01098.x

By:

Escobar, Victor

Publication type:

Article

A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 477, doi. 10.1111/j.1399-0004.1984.tb01092.x

By:

Muneer, Razia S.;
Himes, Jeannie R.;
Payne-Howell, René M.;
Thompson, Lora M.;
Rennert, Owen M.

Publication type:

Article

Early clinical signs in Coffin-Lowry syndrome.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 448, doi. 10.1111/j.1399-0004.1984.tb01087.x

By:

Vles, J. S. H.;
Haspeslagh, M.;
Raes, M. M. R.;
Fryns, J. P.;
Casaer, P.;
Eggermont, E.

Publication type:

Article

Birth intervals in oral cleft families.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 488, doi. 10.1111/j.1399-0004.1984.tb01095.x

By:

Jongbloet, P. H.

Publication type:

Article

Confirmation of F13A assignment and sequence information concerning F13A-HLA-GLO.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 385, doi. 10.1111/j.1399-0004.1984.tb01077.x

By:

Eiberg, H.;
Nielsen, L. S.;
Mohr, J.

Publication type:

Article

The gene for apolipoprotein C-ll is closely linked to the gene for apolipoprotein E on chromosome 19.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 389, doi. 10.1111/j.1399-0004.1984.tb01078.x

By:

Humphries, S. E.;
Berg, K.;
Gill, L.;
Cumming, A. M.;
Robertson, F. W.;
Stalenhoef, A. F. H.;
Williamson, R.;
Børresen, A.-L.

Publication type:

Article

Familial 5p- syndrome.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 472, doi. 10.1111/j.1399-0004.1984.tb01091.x

By:

Kushnick, Theodore;
Rao, Kathleen W.;
Lamb, Allen N.

Publication type:

Article

α-L-iduronidase deficiency in mucopolysaccharidosis type I against a radio-labelled sulfated disaccharide substrate derived from dermatan sulfate.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 414, doi. 10.1111/j.1399-0004.1984.tb01081.x

By:

Muller, Vivienne J.;
Hopwood, John J.

Publication type:

Article

ATPase activity of erythrocyte membrane in patients with trisomy 21 (Down's syndrome).

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 429, doi. 10.1111/j.1399-0004.1984.tb01083.x

By:

Qi-Ming, Xue;
Ding-Guo, Shen;
Wei, Dong

Publication type:

Article

X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 453, doi. 10.1111/j.1399-0004.1984.tb01088.x

By:

Siber, Margaret

Publication type:

Article

Encephalo-oculo-cutaneous dysplasia.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 493, doi. 10.1111/j.1399-0004.1984.tb01097.x

By:

Walbaum, R.

Publication type:

Article

Amniotic fluid analysis in prenatal diagnosis of neural tube defects: a comparison between six biochemical tests supplementary to the measurement of amniotic fluid alpha-fetoprotein.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 406, doi. 10.1111/j.1399-0004.1984.tb01080.x

By:

Toftager-Larsen, K.;
Wandrup, J.;
Nørgaard-Pedersen, B.

Publication type:

Article

Autosomal dominant lamellar ichthyosis: a new skin disorder.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 457, doi. 10.1111/j.1399-0004.1984.tb01089.x

By:

Traupe, H.;
Kolde, G.;
Happle, R.

Publication type:

Article

Maternal translocation t(13:18)(q34:q11) and Edwar's syndrome in a fetus: 47, XY, t(13:18)(q34:q11) + 18.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 481, doi. 10.1111/j.1399-0004.1984.tb01093.x

By:

Marković, Stefanija;
Boué, Joëlle;
Krstić, Miomir;
&Scar;ulović, Vohn;
DOćCIć, SLobodan;
ADćIć, SLAVENKA

Publication type:

Article

Comment on 'Partial trisomy 11q...', report by De France et al. (1984).

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 492, doi. 10.1111/j.1399-0004.1984.tb01096.x

By:

Borgaonkar, Digamber S.

Publication type:

Article

Klinefelter syndrome and two fragile X chromosomes.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 445, doi. 10.1111/j.1399-0004.1984.tb01086.x

By:

Fryns, J. P.;
Kleczkowska, A.;
Wolfs, I.;
Berghe, H. VAN DEN

Publication type:

Article

Two sibs with bilateral diaphragmatic defect.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 485, doi. 10.1111/j.1399-0004.1984.tb01094.x

By:

Schubert-Staudacher, Eva;
Jauch, Hubert

Publication type:

Article

Parental determinants of birth weight.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 397, doi. 10.1111/j.1399-0004.1984.tb01079.x

By:

Magnus, P.;
Berg, K.;
Bjerkedal, T.;
Nance, W. E.

Publication type:

Article

Oculocutaneous albinism and anterior chambre cleavage malformations.

Published in:

Clinical Genetics, 1984, v. 26, n. 5, p. 440, doi. 10.1111/j.1399-0004.1984.tb01085.x

By:

Dorp, D. B. VAN;
Delleman, J. W.;
Loewer-Sieger, D. H.

Publication type:

Article