Works matching IS 00099163 AND DT 2004 AND VI 65 AND IP 4

Results: 19

Short Report Mutational spectrum in Usher syndrome type II.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 288, doi. 10.1046/j.1399-0004.2004.00216.x
By:
- Ouyang, X.M.;
- Yam, D.;
- Hejtmancik, J.F.;
- Jacobson, S.G.;
- Li, A.R.;
- Du, L.L.;
- Angeli, S.;
- Kaiser, M.;
- Balkany, T.;
- Liu, X.Z.
Publication type:
Article
Short Report Terminal deletion of the long arm of chromosome 10.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 294, doi. 10.1111/j.1399-0004.2004.00218.x
By:
- Scigliano, S.;
- Grégoire, M.J.;
- Schmitt, M.;
- Jonveaux, P.H.;
- LeHeup, B.
Publication type:
Article
Short Report The Mainz Severity Score Index: a new instrument for quantifying the Anderson–Fabry disease phenotype, and the response of patients to enzyme replacement therapy.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 299, doi. 10.1111/j.1399-0004.2004.00219.x
By:
- Whybra, C.;
- Kampmann, C.;
- Krummenauer, F.;
- Ries, M.;
- Mengel, E.;
- Miebach, E.;
- Baehner, F.;
- Kim, K.;
- Bajbouj, M.;
- Schwarting, A.;
- Gal, A.;
- Beck, M.
Publication type:
Article
Short Report Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 308, doi. 10.1111/j.1399-0004.2004.00220.x
By:
- Kievit, W.;
- de Bruin, J.H.F.M.;
- Adang, E.M.M.;
- Ligtenberg, M.J.L.;
- Nagengast, F.M.;
- van Krieken, J.H.J.M.;
- Hoogerbrugge, N.
Publication type:
Article
Short Report Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 317, doi. 10.1111/j.1399-0004.2004.00222.x
By:
- Kotze, M.J.;
- de Villiers, J.N.P.;
- Bouwens, C.S.H.;
- Warnich, L.;
- Zaahl, M.G.;
- van der Merwe, S.;
- Oberkanins, C.
Publication type:
Article
Short Report Detection of RAG mutations and prenatal diagnosis in families presenting with either T–B– severe combined immunodeficiency or Omenn's syndrome.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 322, doi. 10.1111/j.1399-0004.2004.00227.x
By:
- Tabori, U.;
- Mark, Z.;
- Amariglio, N.;
- Etzioni, A.;
- Golan, H.;
- Biloray, B.;
- Toren, A.;
- Rechavi, G.;
- Dalal, I.
Publication type:
Article
Short Report Utilization of prenatal genetic testing by Israeli Moslem women: a national survey.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 278, doi. 10.1111/j.1399-0004.2004.00228.x
By:
- Sher, C.;
- Romano-Zelekha, O.;
- Green, M.S.;
- Shohat, T.
Publication type:
Article
Short Report Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 327, doi. 10.1111/j.1399-0004.2004.00229.x
By:
- Karpf, J.;
- Turk, J.;
- Howlin, P.
Publication type:
Article
Short Report Novel CFTR mutations in black cystic fibrosis patients.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 284, doi. 10.1111/j.1399-0004.2004.00230.x
By:
- Feuillet-Fieux, M.N.;
- Ferrec, M.;
- Gigarel, N.;
- Thuillier, L.;
- Sermet, I.;
- Steffann, J.;
- Lenoir, G.;
- Bonnefont, J.P.
Publication type:
Article
Letter to the Editor Genetic counseling of medullary breast cancer patients.
Published in:
2004
By:
- Kroupis, C.;
- Lianidou, E.;
- Goutas, N.;
- Vasilaros, S.;
- Yannoukakos, D.;
- Petersen, M.B.
Publication type:
Letter
Short Report Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00232.x
By:
- Sripriya, S.;
- Uthra, S.;
- Sangeetha, R.;
- George, R.J.;
- Hemamalini, A.;
- Paul, P.G.;
- Amali, J.;
- Vijaya, L.;
- Kumaramanickavel, G.
Publication type:
Article
Short Report The frequency of GJB2 and GJB6 mutations in the New York State newborn population: feasibility of genetic screening for hearing defects.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 338, doi. 10.1111/j.1399-0004.2004.00233.x
By:
- Fitzgerald, T.;
- Duva, S.;
- Ostrer, H.;
- Pass, K.;
- Oddoux, C.;
- Ruben, R.;
- Caggana, M.
Publication type:
Article
Developmental Biology: Frontiers for Clinical Genetics Section Editors: Roderick R. McInnes, e-mail: Jacques Michaud, e-mail: Reproductive epigenetics.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 247, doi. 10.1111/j.0009-9163.2004.00236.x
By:
- Kelly, T.L.J.;
- Trasler, J.M.
Publication type:
Article
HotSpot The hunt for BRCA2 interactors scores a big hit: EMSY as a prognostic tool for sporadic breast cancer.
Published in:
2004
By:
- Slow, E.J.
Publication type:
Other
HotSpot From families to genes and back: can a hemochromatosis gene help treat the anemia of chronic disease?
Published in:
2004
By:
- Slow, E.J.
Publication type:
Other
HotSpot Pyruvate kinase deficiency: providing protection from Plasmodium parasitism.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 264, doi. 10.1111/j.0009-9163.2004.0240c.x
By:
- Coburn, B.A.
Publication type:
Article
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 267, doi. 10.1111/j.1399-0004.2004.00241.x
By:
- Langbehn, D.R.;
- Brinkman, R.R.;
- Falush, D.;
- Paulsen, J.S.;
- Hayden, M.R.
Publication type:
Article
Erratum.
Published in:
2004
Publication type:
Correction Notice
Announcement.
Published in:
Clinical Genetics, 2004, v. 65, n. 4, p. 346, doi. 10.1111/j.1399-0004.2004.00248.x
Publication type:
Article