Works matching IS 00099163 AND DT 2004 AND VI 66 AND IP 4

Results: 19

Screening ofSLC26A4(PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 333, doi. 10.1111/j.1399-0004.2004.00296.x
By:
- Blons, H.;
- Feldmann, D.;
- Duval, V.;
- Messaz, O.;
- Denoyell, F.;
- Loundon, N.;
- Sergout-Allaoui, A.;
- Houang, M.;
- Duriez, F.;
- Lacombe, D.;
- Delobel, B.;
- Leman, J.;
- Catros, H.;
- Journel, H.;
- Drouin-Garraud, V.;
- Obstoy, M.-F.;
- Toutain, A.;
- Oden, S.;
- Toublanc, J. E.;
- Couderc, R.
Publication type:
Article
Genetic discrimination: the clinician perspective.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 311, doi. 10.1111/j.1399-0004.2004.00303.x
By:
- Nedelcu, R.;
- Blazer, K. R.;
- Schwerin, B. U.;
- Gambol, P.;
- Mantha, P.;
- Uman, G. C.;
- Weitzel, J. N.
Publication type:
Article
Genetic analysis of primary microcephaly in Indian families: novelASPMmutations.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 341, doi. 10.1111/j.1399-0004.2004.00304.x
By:
- Kumar, A.;
- Blanton, S. H.;
- Babu, M.;
- Markandaya, M.;
- Girimaji, S. C.
Publication type:
Article
Haplotype analysis at theETM2locus in a Singaporean sample with familial essential tremor.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 353, doi. 10.1111/j.1399-0004.2004.00306.x
By:
- Higgins, J. J.;
- Lombardi, R. Q.;
- Tan, E. K.;
- Jankovic, J.;
- Pucilowska, J.;
- Rooney, J. P.
Publication type:
Article
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1).
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 318, doi. 10.1111/j.1399-0004.2004.00308.x
By:
- Kleefstra, T.;
- Franken, C. E.;
- Arens, Y. H. J. M.;
- Ramakers, G. J. A.;
- Yntema, H. G.;
- Sistermans, E. A.;
- Hulsmans, C. F. C. H.;
- Nillesen, W. N.;
- van Bokhoven, H.;
- de Vries, B. B. A.;
- Hamel, B. C. J.
Publication type:
Article
Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 299, doi. 10.1111/j.1399-0004.2004.00309.x
By:
- Qi, L.;
- Corella, D.;
- Sorli, J. V.;
- Portolés, O.;
- Shen, H.;
- Coltell, O.;
- Godoy, D.;
- Greenberg, A. S.;
- Ordovas, J. M.
Publication type:
Article
The dynamics of X-inactivation skewing as women age.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 327, doi. 10.1111/j.1399-0004.2004.00310.x
By:
- Hatakeyam, C.;
- Anderson, C. L.;
- Beever, C. L.;
- Peñaherrea, M. S.;
- Brown, C. J.;
- Robinson, W. P.
Publication type:
Article
Refined mapping of the autosomal recessive non-syndromic deafness locusDFNB13using eight novel microsatellite markers.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 358, doi. 10.1111/j.1399-0004.2004.00311.x
By:
- Masmoudi, S.;
- Charfedine, I.;
- Rebeh, I. B.;
- Rebai, A.;
- Tlili, A.;
- Ghorbel, A. M.;
- Belguith, H.;
- Petit, C.;
- Drira, M.;
- Ayadi, H.
Publication type:
Article
Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 349, doi. 10.1111/j.1399-0004.2004.00312.x
By:
- Gilchrist, D. M.;
- Morrish, D. W.;
- Bridge, P. J.;
- Brown, J. L.
Publication type:
Article
Common variants inβ<sub>2</sub>- andβ<sub>3</sub>-adrenergic receptor genes and uncoupling protein 1 as predictors of the risk for type 2 diabetes and body weight changes.The Finnish Diabetes Prevention Study.
Published in:
2004
By:
- Salopuro, T.;
- Lindström, J.;
- Eriksson, J. G.;
- Valle, T. T.;
- Hämäläinen, H.;
- Ilanne-Parikka, P.;
- Keinänen-Kiukaanniemi, S.;
- Tuomilehto, J.;
- Laakso, M.;
- Uusitupa, M.
Publication type:
Letter
T-box genes and congenital heart/limb malformations.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 253, doi. 10.1111/j.1399-0004.2004.00314.x
By:
- Isphording, D.;
- Leylek, A. M.;
- Yeung, J.;
- Mischel, A.;
- Simon, H.-G.
Publication type:
Article
Will the new cytogenetics replace the old cytogenetics?
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 265, doi. 10.1111/j.1399-0004.2004.00316.x
By:
- Salman, M.;
- Jhanwar, S. C.;
- Ostrer, H.
Publication type:
Article
Genetic basis of Prader–Willi syndrome in Korea: less uniparental disomy than has been recognized?
Published in:
2004
By:
- Kim, H.-J.;
- Cho, H.-J.;
- Jin, D.-K.;
- Kwon, E.-K.;
- Ki, C.-S.;
- Kim, J.-W.;
- Kim, S.-H.
Publication type:
Letter
Genetic landmarks through philately– epilepsy and clinical genetic issues.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 290, doi. 10.1111/j.1399-0004.2004.00331.x
By:
- Chodirker, B. N.;
- Chudley, A. E.
Publication type:
Article
HD aggregates accelerate autophagy.
Published in:
2004
By:
- Rogers, D.;
- Leavitt, B. R.
Publication type:
Other
Turning up the heat on hereditary neuropathies.
Published in:
2004
By:
- Lee, S. S.;
- Leavitt, B. R.
Publication type:
Other
Computational biology to the rescue: the ongoing quest to understand Bardet–Biedl syndrome.
Published in:
2004
By:
- Bhogal, A. K.;
- Leavitt, B. R.
Publication type:
Other
Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human.
Published in:
Clinical Genetics, 2004, v. 66, n. 4, p. 276, doi. 10.1111/j.1399-0004.2004.00354.x
By:
- McInnes, Roderick R.;
- Michaud, Jacques;
- Richards, L. J.;
- Plachez, C.;
- Ren, T.
Publication type:
Article
Erratum.
Published in:
2004
Publication type:
Correction Notice