Works matching IS 00099163 AND DT 2010 AND VI 77 AND IP 4

Results: 18

DISC1 duplication in two brothers with autism and mild mental retardation.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 389, doi. 10.1111/j.1399-0004.2009.01318.x
By:
- Crepel, A.;
- Breckpot, J.;
- Fryns, J.-P.;
- De la Marche, W.;
- Steyaert, J.;
- Devriendt, K.;
- Peeters, H.
Publication type:
Article
Non-classic cystic fibrosis associated with D1152H CFTR mutation.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 355, doi. 10.1111/j.1399-0004.2009.01294.x
By:
- Burgel, P.-R.;
- Fajac, I.;
- Hubert, D.;
- Grenet, D.;
- Stremler, N.;
- Roussey, M.;
- Siret, D.;
- Languepin, J.;
- Mely, L.;
- Fanton, A.;
- Labb, A.;
- Domblides, P.;
- Vic, P.;
- Dagorne, M.;
- Reynaud-Gaubert, M.;
- Counil, F.;
- Varaigne, F.;
- Bienvenu, T;
- Bellis, G.;
- Dusser, D.
Publication type:
Article
Treatment-focused DNA testing for newly diagnosed breast cancer patients: some implications for clinical practice.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 350, doi. 10.1111/j.1399-0004.2009.01307.x
By:
- Lobb, E. A.;
- Barlow-Stewart, K.;
- Suthers, G.;
- Hallowell, N.
Publication type:
Article
Co-occurring diagnoses among FMR1 premutation allele carriers.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 374, doi. 10.1111/j.1399-0004.2009.01317.x
By:
- Hunter, J. E.;
- Rohr, J. K.;
- Sherman, S. L.
Publication type:
Article
Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 382, doi. 10.1111/j.1399-0004.2009.01323.x
By:
- van der Vorm, A.;
- van der Laan, A. L.;
- Borm, G.;
- Vernooij-Dassen, M.;
- Olde Rikkert, M.;
- van Leeuwen, E.;
- Dekkers, W.
Publication type:
Article
SCN9A: another sodium channel excited to play a role in human epilepsies.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 326, doi. 10.1111/j.1399-0004.2009.01366_1.x
By:
- Doty, C. N.
Publication type:
Article
Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 342, doi. 10.1111/j.1399-0004.2009.01329.x
By:
- Skytte, A.-B.;
- Gerdes, A.-M.;
- Andersen, M. K.;
- Sunde, L.;
- Brøndum-Nielsen, K.;
- Waldstrøm, M.;
- Kølvraa, S.;
- Crüger, D.
Publication type:
Article
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 395, doi. 10.1111/j.1399-0004.2009.01338.x
By:
- Yang, T.;
- Kahrizi, K.;
- Bazazzadeghan, N.;
- Meyer, N.;
- Najmabadi, H.;
- Smith, R. J. H.
Publication type:
Article
Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 333, doi. 10.1111/j.1399-0004.2009.01352.x
By:
- Bartsch, D. K.;
- Langer, P.;
- Habbe, N.;
- Matthäi, E.;
- Chaloupka, B.;
- Sina, M.;
- Hahn, S. A.;
- Slater, E. P.
Publication type:
Article
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 404, doi. 10.1111/j.1399-0004.2009.01355.x
By:
- Mazzeu, J. F.;
- Vianna-Morgante, A. M.;
- Krepischi, A. C. V.;
- Oudakker, A.;
- Rosenberg, C.;
- Szuhai, K.;
- McGill, J.;
- MacCraughan, J.;
- van Bokhoven, H.;
- Brunner, H. G.
Publication type:
Article
The Trp117Arg mutation of the COCH gene causes deafness in Koreans.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 399, doi. 10.1111/j.1399-0004.2009.01362.x
By:
- Baek, J.-I.;
- Cho, H.-J.;
- Choi, S.-J.;
- Kim, L.-S.;
- Zhao, C.;
- Sagong, B. R.;
- Kim, U.-K.;
- Jeong, S.-W.
Publication type:
Article
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 365, doi. 10.1111/j.1399-0004.2009.01336.x
By:
- Moslehi, R.;
- Signore, C.;
- Tamura, D.;
- Mills, J. L.;
- DiGiovanna, J. J.;
- Tucker, M. A.;
- Troendle, J.;
- Ueda, T.;
- Boyle, J.;
- Khan, S. G.;
- Oh, K.-S.;
- Goldstein, A. M.;
- Kraemer, K. H.
Publication type:
Article
Taking a SUMO off a TRP for bad conduct.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 328, doi. 10.1111/j.1399-0004.2009.01366_2.x
By:
- Pouladi, M. A.
Publication type:
Article
Genome-wide association studies identify new interesting loci for late-onset Alzheimer's disease.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 330, doi. 10.1111/j.1399-0004.2009.01366_3.x
By:
- Skotte, N.
Publication type:
Article
microRNAs in diseases: from candidate to modifier genes.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 306, doi. 10.1111/j.1399-0004.2010.01370.x
By:
- Bandiera, S.;
- Hatem, E.;
- Lyonnet, S.;
- Henrion-Caude, A.
Publication type:
Article
Erratum.
Published in:
2010
Publication type:
Correction Notice
Claudins: unlocking the code to tight junction function during embryogenesis and in disease.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 314, doi. 10.1111/j.1399-0004.2010.01397.x
By:
- Gupta, I. R.;
- Ryan, A. K.
Publication type:
Article
Announcement.
Published in:
Clinical Genetics, 2010, v. 77, n. 4, p. 305, doi. 10.1111/j.1399-0004.2010.01420.x
By:
- Hayden, Michael R.
Publication type:
Article