Works matching IS 00099163 AND DT 1992 AND VI 41 AND IP 2

Results: 14

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 70, doi. 10.1111/j.1399-0004.1992.tb03635.x

By:

Jones, L. A.;
Skara, J. C.;
Cohen, A. S.;
Harding, J. A.;
Milunsky, A.;
Skinner, M.

Publication type:

Article

A lethal syndrome resembling branchio-oculo facial syndrome.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 74, doi. 10.1111/j.1399-0004.1992.tb03636.x

By:

Hind, A. V.;
Torack, Richard;
Dowton, S. B.

Publication type:

Article

A girl with 71,XXXXY karyotype.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 96, doi. 10.1111/j.1399-0004.1992.tb03641.x

By:

Maaswinksl-Mooij, P. D.;
Zwieten, P.;
Mollevanger, P.;
Noort, E.;
Beverstock, G.

Publication type:

Article

The thymic findings in stillborns with neural tube defects.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 62, doi. 10.1111/j.1399-0004.1992.tb03633.x

By:

Seniz, Fatma Nur

Publication type:

Article

No effect of a Taql polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 90, doi. 10.1111/j.1399-0004.1992.tb03640.x

By:

Berge, K. L.;
Berg, K.

Publication type:

Article

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 65, doi. 10.1111/j.1399-0004.1992.tb03634.x

By:

Lund, Allan M.;
Eiberg, Hans;
Rosenberg, Thomas;
Warburg, Mette

Publication type:

Article

Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 87, doi. 10.1111/j.1399-0004.1992.tb03639.x

By:

Lerone, M.;
Possagno, A.;
Taccone, A.;
Poggi, G.;
Romeo, G.;
Silengo, M. C.

Publication type:

Article

A boy with Poland anomaly and facio-auriculo-vertebral dysplasia.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 105, doi. 10.1111/j.1399-0004.1992.tb03643.x

By:

Cobben, J. M.;
Essen, A. J.;
McParland, P. G.;
Polman, H. A.;
Kate, L. P.

Publication type:

Article

The interstitial deletion of bands q33-35 of long arm of chromosome 7: a review with a new case report.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 82, doi. 10.1111/j.1399-0004.1992.tb03638.x

By:

Verma, Ram S.;
Conte, Robert A.;
Sayegh, Sami L.;
Kanjilal, Debasis

Publication type:

Article

Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 57, doi. 10.1111/j.1399-0004.1992.tb03632.x

By:

Frydman, M.;
Cohen, H. A.;
Karmon, G.;
Savir, H.

Publication type:

Article

A new form of X-linked, high-frequency, sensorineural deafness.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 79, doi. 10.1111/j.1399-0004.1992.tb03637.x

By:

Wellesley, Diana;
Goldblatt, Jack

Publication type:

Article

Quality control in routine chromosome analysis: prediction of total number of bands for the individual case analyzed.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 100, doi. 10.1111/j.1399-0004.1992.tb03642.x

By:

Claussan, U.;
Kleider, W.;
Muller, H.-G.;
Wills, N.;
Baumann, H. A.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1992, v. 41, n. 2, p. 111, doi. 10.1111/j.1399-0004.1992.tb03645.x
Publication type:: Article

Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X-linked inheritance.

Published in:

Clinical Genetics, 1992, v. 41, n. 2, p. 108, doi. 10.1111/j.1399-0004.1992.tb03644.x

By:

Castle, David;
Isaacs, Hyam;
Ramsay, Michale;
Bernstein, Renee

Publication type:

Article