Works matching IS 00099163 AND DT 2005 AND VI 67 AND IP 4

Results: 18

Genetics of individual differences in bitter taste perception: lessons from thePTCgene.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 275, doi. 10.1111/j.1399-0004.2004.00361.x
By:
- Kim, U.K.;
- Drayna, D.
Publication type:
Article
Glyc-O-genetics of Walker–Warburg syndrome.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 281, doi. 10.1111/j.1399-0004.2004.00368.x
By:
- van Reeuwijk, J.;
- Brunner, H.G.;
- van Bokhoven, H.
Publication type:
Article
Novel mutations in thecalpain 3gene in Germany.
Published in:
2005
By:
- Todorova, A.;
- Kress, W.;
- Mueller, C. R.
Publication type:
Letter
Association ofCOL1A2,COL2A1andCOL9A1and primary osteoarthritis in a founder population.
Published in:
2005
By:
- Snelgrove, T. A.;
- Peddle, L. J.;
- Stone, C.;
- Noftall, F.;
- Peddle, D.;
- Squire, D.;
- Rockwood, P.;
- Martin, R.;
- Tobin, Y.;
- Gladney, N.;
- Rahman, P.
Publication type:
Letter
Identification of germlineBRCA1andBRCA2genetic alterations in Greek breast cancer moderate-risk and low-risk individuals– correlation with clinicopathological data.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 322, doi. 10.1111/j.1399-0004.2004.00400.x
By:
- Kataki, A.;
- Gomatos, I.P.;
- Pararas, N.;
- Armakolas, A.;
- Panousopoulos, D.;
- Karantzikos, G.;
- Voros, D.;
- Zografos, G.;
- Markopoulos, C.;
- Leandros, E.;
- Konstadoulakis, M.M.
Publication type:
Article
Elastic fiber abnormalities in hypermobility type Ehlers–Danlos syndrome patients with tenascin-X mutations.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 330, doi. 10.1111/j.1399-0004.2005.00401.x
By:
- Zweers, M.C.;
- Dean, W.B.;
- van Kuppevelt, T.H.;
- Bristow, J.;
- Schalkwijk, J.
Publication type:
Article
A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 303, doi. 10.1111/j.1399-0004.2004.00405.x
By:
- Hunter, A.G.W.;
- Cappelli, M.;
- Humphreys, L.;
- Allanson, J.E.;
- Chiu, T.T.;
- Peeters, C.;
- Moher, D.;
- Zimak, A.
Publication type:
Article
A variant Cri du Chat phenotype and autism spectrum disorder in a subject withde novocryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 341, doi. 10.1111/j.1399-0004.2005.00406.x
By:
- Harvard, C.;
- Malenfant, P.;
- Koochek, M.;
- Creighton, S.;
- Mickelson, E.C.R.;
- Holden, J.J.A.;
- Lewis, M.E.S.;
- Rajcan-Separovic, E.
Publication type:
Article
A search for the gene(s) predisposing to idiopathic clubfoot.
Published in:
2005
By:
- Dietz, F. R.;
- Cole, W. G.;
- Tosi, L. L.;
- Carroll, N. C.;
- Werner, R. D.;
- Comstock, D.;
- Murray, J. C.
Publication type:
Letter
Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity.
Published in:
2005
By:
- MacDonald, M. L. E.;
- Goldberg, Y. P.;
- MacFarlane, J.;
- Samuels, M. E.;
- Trese, M. T.;
- Shastry, B. S.
Publication type:
Letter
LARALink: a web application for cytogenetic linkage analysis.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 314, doi. 10.1111/j.1399-0004.2005.00409.x
By:
- Fayz, B.;
- Moldenhauer, J.S.;
- Wang, D.;
- Zhao, C.;
- Yao, B.;
- Liu, D.;
- Weinsheimer, S.;
- Gardner, L.;
- Johnson, A.;
- Womble, D.D.;
- Krawetz, S.A.
Publication type:
Article
Myocilin gene implicated in primary congenital glaucoma.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 335, doi. 10.1111/j.1399-0004.2005.00411.x
By:
- Kaur, K.;
- Reddy, A.B.M.;
- Mukhopadhyay, A.;
- Mandal, A.K.;
- Hasnain, S.E.;
- Ray, K.;
- Thomas, R.;
- Balasubramanian, D.;
- Chakrabarti, S.
Publication type:
Article
The I1307K APC mutation in a high-risk clinic setting: a follow-up study.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 352, doi. 10.1111/j.1399.0004.2005.00412.x
By:
- Regev, M.;
- Barzilai, S.-Eisenberg;
- Figer, A.;
- Zidan, J.;
- Fidder, H. H.;
- Friedman, E.
Publication type:
Article
Xp22.3 microdeletion includingVCX-AandVCX-B1genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation.
Published in:
2005
By:
- Lesca, G.;
- Sinilnikova, O. M.;
- Theuil, G.;
- Blanc, J. F.;
- Edery, P.;
- Till, M.
Publication type:
Letter
TheZICgene family in development and disease.
Published in:
Clinical Genetics, 2005, v. 67, n. 4, p. 290, doi. 10.1111/j.1399-0004.2005.00418.x
By:
- Grinberg, I.;
- Millen, K.J.
Publication type:
Article
Thrombosis in autoimmune disease: MBL2 genotyping identifies at-risk people.
Published in:
2005
By:
- Haigh, B.
Publication type:
Other
Inherited microdeletions that give rise to Beckwith–Wiedemann syndrome.
Published in:
2005
By:
- Kang, M.
Publication type:
Other
Juvenile myoclonic epilepsy, calcium and the EF hand of death.
Published in:
2005
By:
- Pouladi, M. A.
Publication type:
Other