Works matching IS 00099163 AND DT 2005 AND VI 68 AND IP 5

Results: 17

Analysis of PINK1 in Asian patients with familial parkinsonism.
Published in:
2005
By:
- Tan, E. K.;
- Yew, K.;
- Chua, E.;
- Shen, H.;
- Jamora, R. D.;
- Lee, E.;
- Puong, K. Y.;
- Y. Zhao;
- R. Pavanni;
- M. C. Wong;
- K. Puvan;
- Y. Yih;
- Tan, L. C. S.
Publication type:
Letter
Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 424, doi. 10.1111/j.1399-0004.2005.00504.x
By:
- Hu, F. Z.;
- Nystrom, A.;
- Ahmed, A.;
- Palmquist, M.;
- Dopico, R.;
- Mossberg, I.;
- Gladitz, J.;
- Rayner, M.;
- Post, J. C.;
- Ehrlich, G. D.;
- Preston, R. A.
Publication type:
Article
Subtelomeric chromosome aberrations: still a lot to learn.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 397, doi. 10.1111/j.1399-0004.2005.00506.x
By:
- Moog, U.;
- Arens, Y. H. J. M.;
- van Lent-Albrechts, J. C. M.;
- Huijts, P. E. A.;
- Smeets, E. E. J.;
- Schrander-Stumpel, C. T. R. M.;
- Engelen, J. J. M.
Publication type:
Article
Discrepancies in upper and lower limb patterning in split hand foot malformation.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 408, doi. 10.1111/j.1399-0004.2005.00511.x
By:
- Elliott, A. M.;
- Reed, M. H.;
- Roscioli, T.;
- Evans, J. A.
Publication type:
Article
Recurrent trisomy 21: four cases in three generations.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 430, doi. 10.1111/j.1399-0004.2005.00512.x
By:
- Gair, J. L.;
- Arbour, L.;
- Rupps, R.;
- Jiang, R.;
- Bruyère, H.;
- Robinson, W. P.
Publication type:
Article
Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 436, doi. 10.1111/j.1399-0004.2005.00513.x
By:
- Yu, S.;
- Baker, E.;
- Hinton, L.;
- Eyre, H. J.;
- Waters, W.;
- Higgins, S.;
- Sutherland, G. R.;
- Haan, E.
Publication type:
Article
Expansion of an intermediate allele of the FMR1 gene in only two generations.
Published in:
2005
By:
- Zuñiga, A.;
- Juan, J.;
- Mila, M.;
- Guerrero, A.
Publication type:
Letter
Recent insights into the Smith–Lemli–Opitz syndrome.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 383, doi. 10.1111/j.1399-0004.2005.00515.x
By:
- Yu, H.;
- Patel, S. B.
Publication type:
Article
Spectrum of mutations in the Wilson disease gene ( ATP7B) in the Bulgarian population.
Published in:
2005
By:
- Todorov, T.;
- Savov, A.;
- Jelev, H.;
- Panteleeva, E.;
- Konstantinova, D.;
- Krustev, Z.;
- Mihaylova, V.;
- Tournev, I.;
- Tankova, L.;
- Tzolova, N.;
- Kremensky, I.
Publication type:
Letter
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 454, doi. 10.1111/j.1399-0004.2005.00517.x
By:
- Sultana, A.;
- Sridhar, M. S.;
- Klintworth, G. K.;
- Balasubramanian, D.;
- Kannabiran, C.
Publication type:
Article
Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 442, doi. 10.1111/j.1399-0004.2005.00519.x
By:
- Ponti, G.;
- Ponz de Leon, M.;
- Maffei, S.;
- Pedroni, M.;
- Losi, L.;
- Di Gregorio, C.;
- Gismondi, V.;
- Scarselli, A.;
- Benatti, P.;
- Roncari, B.;
- Seidenari, S.;
- Pellacani, G.;
- Varotti, C.;
- Prete, E.;
- Varesco, L.;
- Roncucci, L.
Publication type:
Article
An analysis of PAX1 in the development of vertebral malformations.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 448, doi. 10.1111/j.1399-0004.2005.00520.x
By:
- Giampietro, P. F.;
- Raggio, C. L.;
- Reynolds, C. E.;
- Shukla, S. K.;
- McPherson, E.;
- Ghebranious, N.;
- Jacobsen, F. S.;
- Kumar, V.;
- Faciszewski, T.;
- Pauli, R. M.;
- Rasmussen, K.;
- Burmester, J. K.;
- Zaleski, C.;
- Merchant, S.;
- David, D.;
- Weber, J. L.;
- Glurich, I.;
- Blank, R. D.
Publication type:
Article
Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 461, doi. 10.1111/j.1399-0004.2005.00521.x
By:
- Rudduck-Sivaswaren, C.;
- Tien, S.-L.;
- Lim, P.;
- Lim, E.;
- Lie, D. K. H.;
- Tan, P. H. C.;
- Lee, A. S. G.
Publication type:
Article
Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus–Merzbacher disease.
Published in:
Clinical Genetics, 2005, v. 68, n. 5, p. 466, doi. 10.1111/j.1399-0004.2005.00522.x
By:
- Gao, Q.;
- Thurston, V. C.;
- Vance, G. H.;
- Dlouhy, S. R.;
- Hodes, M. E.
Publication type:
Article
Taking out the trash: dynein mutations in autophagy and neurodegenerative disorders.
Published in:
2005
By:
- Bombard, Y.
Publication type:
Other
Genetic screening for colon cancer.
Published in:
2005
By:
- Helm, J. R.
Publication type:
Other
The association between SNPs in the MHC2TA promoter and immune-related human diseases.
Published in:
2005
By:
- Kang, M.
Publication type:
Other