Works matching IS 00099163 AND DT 1985 AND VI 28 AND IP 1

Results: 19

The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 47, doi. 10.1111/j.1399-0004.1985.tb01217.x

By:

Hunter, Alasdair G. W.;
Clifford, Brian;
Cox, David M.

Publication type:

Article

Paracentric inversions in man.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 87, doi. 10.1111/j.1399-0004.1985.tb01224.x

By:

Callen, D. F.;
Woollatt, E.;
Sutherland, G. R.

Publication type:

Article

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 69, doi. 10.1111/j.1399-0004.1985.tb01220.x

By:

Beighton, P.;
Winship, I.;
Behari, D.

Publication type:

Article

Genetic linkage analysis of epidermolysis bullosa dystrophia, Cockayne-Touraine type.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 31, doi. 10.1111/j.1399-0004.1985.tb01214.x

By:

Mulley, J. C.;
Turner, T.;
Nicholls, C.;
Propert, D.;
Sutherland, G. R.

Publication type:

Article

Genetic counseling and genetic heterogeneity in the thalassemias.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 1, doi. 10.1111/j.1399-0004.1985.tb01209.x

By:

Paglietti, E.;
Galanello, R.;
Addis, M.;
Cao, A.

Publication type:

Article

Autosomal dominant cataract and microcornea associated with myopia in a Sicilian family.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 42, doi. 10.1111/j.1399-0004.1985.tb01216.x

By:

Mollica, F.;
Volti, S. Li;
Tomarchio, S.;
Gangi, A.;
Risiglione, V.;
Gorgone, G.

Publication type:

Article

Letters to the Editors:Fra(X)syndrome and autism.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 93, doi. 10.1111/j.1399-0004.1985.tb01225.x

By:

Bénézech, M.;
Noël, B.

Publication type:

Article

Possible teratogenic effects of artificial insemination by donor.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 23, doi. 10.1111/j.1399-0004.1985.tb01212.x

By:

Forse, R. A.;
Ackman, C. F. D.;
Fraser, F. C.

Publication type:

Article

Prenatal diagnosis of cystic fibrosis by trehalase enzyme assay in amniotic fluid.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 16, doi. 10.1111/j.1399-0004.1985.tb01211.x

By:

Szabó, M.;
Teichmann, F.;
Szeifert, G. T.;
Tóth, M.;
Tóth, Z.;
Török, O.;
Papp, Z.

Publication type:

Article

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome A follow-up report on 38 cases.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 27, doi. 10.1111/j.1399-0004.1985.tb01213.x

By:

Butler, Merlin G.;
Meaney, F. John

Publication type:

Article

Genetic regulation of the kinetics of glucose-induced insulin release in man Studies in families with diabetic and non-diabetic probands.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 8, doi. 10.1111/j.1399-0004.1985.tb01210.x

By:

Iselius, L.;
Lindsten, J.;
Morton, N. E.;
Efendić, S.;
Cerasi, E.;
Haegermark, A.;
Luft, R.

Publication type:

Article

Yq deletion (q11.21) in a H-Y.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 80, doi. 10.1111/j.1399-0004.1985.tb01222.x

By:

Martín, María José;
Rodriguez, María Teresa;
Aller, Vitalino;
Abrisqueta, José A.;
Rojo, José M.

Publication type:

Article

Monosomy 16q: a distinct syndrome Apropos of a de novo del(16) (q2100q2300).

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 84, doi. 10.1111/j.1399-0004.1985.tb01223.x

By:

Rivera, Horacio;
Vargas-Moyeda, Elvira;
Möller, Melba;
Torres-Lamas, Armando;
Cantú, José María

Publication type:

Article

Letters to the Editors:Detection of fragile sites on human chromosomes.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 95, doi. 10.1111/j.1399-0004.1985.tb01227.x

By:

Hecht, Frederick;
Sutherland, Grant R.

Publication type:

Article

The facio-audio-symphalangism syndrome: report of a case and review of the literature.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 61, doi. 10.1111/j.1399-0004.1985.tb01219.x

By:

Hurvitz, S. A.;
Goodman, R. M.;
Hertz, M.;
Katznelson, M. Bat-Miriam;
Sack, Y.

Publication type:

Article

Guadalajara camptodactyly syndrome type II.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 54, doi. 10.1111/j.1399-0004.1985.tb01218.x

By:

Cantú, J. M.;
García-Cruz, D.;
Gil-Viera, J.;
Nazará, Z.;
Ramírez, M. L.;
Solé-Pujol, M. T.;
Sánchez-Corona, J.

Publication type:

Article

Letters to the Editors:Fragile sites and chromosome breakpoints in constitutional rearrangements.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 94, doi. 10.1111/j.1399-0004.1985.tb01226.x

By:

Hecht, Frederick;
Hecht, Barbara K.

Publication type:

Article

Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 36, doi. 10.1111/j.1399-0004.1985.tb01215.x

By:

Geraedts, J. P. M.;
Leschot, N. J.;
Veenema, H.

Publication type:

Article

The Groll-Hirschowitz syndrome.

Published in:

Clinical Genetics, 1985, v. 28, n. 1, p. 76, doi. 10.1111/j.1399-0004.1985.tb01221.x

By:

Potasman, I.;
Stermer, E.;
Levy, N.;
Dar, H.;
Bassan, H.

Publication type:

Article