Works matching IS 00099163 AND DT 1994 AND VI 45 AND IP 4

Results: 13

Clinical aspects of the MASA syndrome in a large family, including expressing females.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 181, doi. 10.1111/j.1399-0004.1994.tb04019.x

By:

Kaepernick, L.;
Legius, E.;
Higgins, J.;
Kapur, S.

Publication type:

Article

Effects of consanguinity on anthropometric measurements of newborn infants.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 208, doi. 10.1111/j.1399-0004.1994.tb04025.x

By:

Başaran, N.;
Artan, S.;
Yaziciogllu, S.;
Şayli, B. S.

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1994, v. 45, n. 4, p. 219, doi. 10.1111/j.1399-0004.1994.tb04028.x
Publication type:: Article

Partial trisomy and monosomy 8p due to inversion duplication.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 203, doi. 10.1111/j.1399-0004.1994.tb04024.x

By:

Engelen, J. J. M.;
Die-Smulders, C. E. M.;
Fryns, J. P.;
Hoovers, J. M. N.;
Albrechts, J. C. M.;
Loots, W. J. G.;
Jacobs, M. E.;
Hamers, A. J. H.

Publication type:

Article

Hereditary pubertal genu valgum in Iran.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 190, doi. 10.1111/j.1399-0004.1994.tb04021.x

By:

Ghorbani, K.;
Carapetian, J.

Publication type:

Article

Achondroplasia with XXY karyotype.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 217, doi. 10.1111/j.1399-0004.1994.tb04027.x

By:

Şayh, B. S.;
Gül, D.;
Çakirbay, H.

Publication type:

Article

The primary hereditary form of distal renal tubular acidosis: clinical and genetic studies in 60-member kindred.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 194, doi. 10.1111/j.1399-0004.1994.tb04022.x

By:

Chaabani, Hassen;
Hadj-Khlil, Amel;
Ben-Dhia, Naceur;
Braham, Hammadi

Publication type:

Article

Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 165, doi. 10.1111/j.1399-0004.1994.tb04016.x

By:

Legius, E.;
Kaepernick, L.;
Higgins, J. V.;
Glover, T. W.

Publication type:

Article

No effect of insertion/ deletion polymorphism at the ACE locus on normal blood pressure level or variability.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 169, doi. 10.1111/j.1399-0004.1994.tb04017.x

By:

Berge, K. E.;
Berg, K.

Publication type:

Article

Multiple coagulation defects and the Cohen syndrome.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 212, doi. 10.1111/j.1399-0004.1994.tb04026.x

By:

Schlichtemeier, Tammi L.;
Tomlinson, Gail E.;
Kamen, Barton A.;
Waber, Lewis J.;
Wilson, Golder N.

Publication type:

Article

Prader-Willi-like phenotype in fragile X syndrome.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 175, doi. 10.1111/j.1399-0004.1994.tb04018.x

By:

Schrander-Stumpel, Constance;
Gerver, Willem-Jan;
Engelen, John;
Mulder, Hans;
Fryns, Jean-Pierre

Publication type:

Article

Fragile X syndrome with extra microchromosome.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 186, doi. 10.1111/j.1399-0004.1994.tb04020.x

By:

López-Pajares, I.;
Delicado, A.;
Pascual-Castroviejo, I.;
López-Martin, V.;
Moreno, F.;
Garcia-Marcos, J. A.

Publication type:

Article

Onychotrichodysplasia and chronic neutropenia without mental retardation (ONS): a second case report.

Published in:

Clinical Genetics, 1994, v. 45, n. 4, p. 200, doi. 10.1111/j.1399-0004.1994.tb04023.x

By:

Dallapiccola, B.;
Mingarelli, R.;
Obregon, G.

Publication type:

Article