Works matching IS 00099163 AND DT 1996 AND VI 49 AND IP 3

Results: 13

Maternal non-recognition of Down syndrome in black South African infants.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 141, doi. 10.1111/j.1399-0004.1996.tb03273.x

By:

Christianson, A. L.;
Kromberg, J. G. R.

Publication type:

Article

Urticaria, arthralgia, and nephropathy without amyloidosis: another variant of the Muckle-Wells syndrome?

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 130, doi. 10.1111/j.1399-0004.1996.tb03271.x

By:

Throssell, D.;
Feehally, J.;
Trembath, R.;
Walls, J.

Publication type:

Article

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 152, doi. 10.1111/j.1399-0004.1996.tb03275.x

By:

Stewart, F.J.;
Carson, D.J.;
Thomas, P.S.;
Humphreys, M.;
Thornton, C.;
Nevin, N.C.

Publication type:

Article

An Avall polymorphism in the human apolipoprotein C-II gene.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 163, doi. 10.1111/j.1399-0004.1996.tb03278.x

By:

Geisel, J.;
Weißhaar, C.;
Oette, K.

Publication type:

Article

Attitudes towards termination for fetal abnormality: comparisons in three European countries.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 134, doi. 10.1111/j.1399-0004.1996.tb03272.x

By:

Drake, Harriet;
Reid, Margaret;
Marteau, Theresa

Publication type:

Article

Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 145, doi. 10.1111/j.1399-0004.1996.tb03274.x

By:

Barišic, Ingeborg;
Zergollern, Liljana;
Mužinic, Dubravka;
Hitrec, Vlasta

Publication type:

Article

Jumping translocation in a phenotypically normal female.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 156, doi. 10.1111/j.1399-0004.1996.tb03276.x

By:

Ballestrem, C. L.;
Boavida, M. G.;
Zuther, C.;
Carreiro, M. H.;
David, D.;
Gal, A.;
Schwinger, E.

Publication type:

Article

Gaucher disease: studies of phenotype, molecular diagnosis and treatment.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 111, doi. 10.1111/j.1399-0004.1996.tb03268.x

By:

Rice, Erin O.;
Mifflin, Theodore E.;
Sakallah, Sameer;
Lee, Robert E.;
Sansieri, Carol A.;
Barranger, John A.

Publication type:

Article

Mutational screening of APP gene in patients with early-onset Alzheimer disease utilizing mismatched PCR-RFLP.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 119, doi. 10.1111/j.1399-0004.1996.tb03269.x

By:

Nishiwaki, Yumiko;
Kamino, Kouzin;
Yoshiiwa, Aoi;
Nagano, Keiko;
Takeda, Masatoshi;
Tanabe, Hirotaka;
Nishimura, Tsuyoshi;
Kobayashi, Toshiko;
Yamamoto, Hideki;
Nonomura, Yasuhiro;
Yoneda, Hiroshi;
Sakai, Toshiaki;
Imagawa, Masaki;
Miki, Tetsuro;
Ogihara, Toshio

Publication type:

Article

Announcement.

Published in:: Clinical Genetics, 1996, v. 49, n. 3, p. 166, doi. 10.1111/j.1399-0004.1996.tb03280.x
Publication type:: Article

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 124, doi. 10.1111/j.1399-0004.1996.tb03270.x

By:

Lindor, Noralane M.;
Devries, Ellen M. G.;
Michels, Virginia V.;
Schad, Christopher R.;
Jalal, Syed M.;
Donovan, Kathleen M.;
Smithson, William A.;
Kvols, Larry K.;
Thibodeau, Stephen N.;
Dewald, Gordon W.

Publication type:

Article

Benign external hydrocephalus in a boy with autosomal dominant microcephaly.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 160, doi. 10.1111/j.1399-0004.1996.tb03277.x

By:

Akaboshi, Izumi;
Ikeda, Tetsuo;
Yoshioka, Susumu

Publication type:

Article

Detection of a Sacl restriction fragment length polymorphism at the human phenolsulphotransferase locus.

Published in:

Clinical Genetics, 1996, v. 49, n. 3, p. 164, doi. 10.1111/j.1399-0004.1996.tb03279.x

By:

Jones, Alwen L.;
Roberts, Richard C.;
Coughtrie, Michael W.H.

Publication type:

Article