Works matching IS 00099163 AND DT 1988 AND VI 33 AND IP 5

Results: 13

X-linked recessive aqueductal stenosis without macrocephaly.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 390, doi. 10.1111/j.1399-0004.1988.tb03467.x

By:

Kelley, Richard I.;
Mennuti, Michael T.;
Hickey, William F.;
Zackai, Elaine H.

Publication type:

Article

Isolated 'clinical anophthalmia' in an extensively affected Arab kindred.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 321, doi. 10.1111/j.1399-0004.1988.tb03458.x

By:

Kohn, Gertrude;
Shawwa, Raghda El;
Rayyes, Eyyas El

Publication type:

Article

16q21 is critical for 16q deletion syndrome.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 372, doi. 10.1111/j.1399-0004.1988.tb03464.x

By:

Naritomi, K.;
Shiroma, N.;
Izumikawa, Y.;
Sameshima, K.;
Ohdo, S.;
Hirayama, K.

Publication type:

Article

Higher resolution banding techniques in the clinical routine.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 325, doi. 10.1111/j.1399-0004.1988.tb03459.x

By:

Latos-Bielenska, Anna;
Hameister, Horst

Publication type:

Article

Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 376, doi. 10.1111/j.1399-0004.1988.tb03465.x

By:

Suzuki, Yoshiyuki;
Tsuji, Akihiko;
Omura, Kiyoshi;
Nakamura, Gen;
Awa, Shoichi;
Kroos, Marian;
Reuser, Arnold J. J.

Publication type:

Article

Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 360, doi. 10.1111/j.1399-0004.1988.tb03463.x

By:

Hasholt, L.;
Wandall, A.;
Sørensen, S. A.

Publication type:

Article

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 331, doi. 10.1111/j.1399-0004.1988.tb03460.x

By:

Vanier, Marie T.;
Wenger, David A.;
Comly, Marcella E.;
Rousson, Robert;
Brady, Roscoe O.;
Pentchev, Peter G.

Publication type:

Article

Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 386, doi. 10.1111/j.1399-0004.1988.tb03466.x

By:

Pierquin, G.;
Herens, C.;
Dodinval, P.;
Frederic, J.;
Weber, I.;
Senterre, J.;
Fryns, J. P.

Publication type:

Article

Erratum.

Published in:: Clinical Genetics, 1988, v. 33, n. 5, p. 400, doi. 10.1111/j.1399-0004.1988.tb03470.x
Publication type:: Article

Partial 6p trisomy associated with infantile autism.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 356, doi. 10.1111/j.1399-0004.1988.tb03462.x

By:

Burd, Larry;
Martsolf, John T.;
Kerbeshian, Jacob;
Jalal, S. M.

Publication type:

Article

Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 349, doi. 10.1111/j.1399-0004.1988.tb03461.x

By:

Meryash, David L.;
Abuelo, Dianne

Publication type:

Article

Mixed hearing loss in Larsen Syndrome.

Published in:

Clinical Genetics, 1988, v. 33, n. 5, p. 395, doi. 10.1111/j.1399-0004.1988.tb03468.x

By:

Stanley, Christopher S.;
Thelin, James W.;
Miles, Judith H.

Publication type:

Article

Announcements.

Published in:: Clinical Genetics, 1988, v. 33, n. 5, p. 399, doi. 10.1111/j.1399-0004.1988.tb03469.x
Publication type:: Article