Works matching IS 00099163 AND DT 2005 AND VI 67 AND IP 6

Results: 15

Consanguineous marriages in Jordan: why is the rate changing with time?
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 511, doi. 10.1111/j.1399-0004.2005.00426.x
By:
- Hamamy, H.;
- Jamhawi, L.;
- Al-Darawsheh, J.;
- Ajlouni, K.
Publication type:
Article
X-linked mental retardation: further lumping, splitting and emerging phenotypes.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 451, doi. 10.1111/j.1399-0004.2005.00434.x
By:
- Kleefstra, T.;
- Hamel, B. C. J.
Publication type:
Article
Analysis ofCRELD1as a candidate 3p25 atrioventicular septal defect locus (AVSD2).
Published in:
2005
By:
- Zatyka, M.;
- Priestley, M.;
- Ladusans, E. J.;
- Fryer, A. E.;
- Mason, J.;
- Latif, F.;
- Maher, E. R.
Publication type:
Letter
Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that thisCystic Fibrosis Transmembrane Conductance Regulatormutation does not cause cystic fibrosis.
Published in:
2005
By:
- Derichs, N.;
- Schuster, A.;
- Grund, I.;
- Ernsting, A.;
- Stolpe, C.;
- Körtge-Jung, S.;
- Gallati, S.;
- Stuhrmann, M.;
- Kozlowski, P.;
- Ballmann, M.
Publication type:
Letter
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 503, doi. 10.1111/j.1399-0004.2005.00438.x
By:
- Jehee, F. S.;
- Johnson, D.;
- Alonso, L. G.;
- Cavalcanti, D. P.;
- de Sá Moreira, E.;
- Alberto, F. L.;
- Kok, F.;
- Kim, C.;
- Wall, S. A.;
- Jabs, E. W.;
- Boyadjiev, S. A.;
- Wilkie, A. O. M.;
- Passos-Bueno, M. R.
Publication type:
Article
Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 492, doi. 10.1111/j.1399-0004.2005.00443.x
By:
- Hallowell, N;
- Ardern-Jones, A;
- Eeles, R;
- Foster, C;
- Lucassen, A;
- Moynihan, C;
- Watson, M
Publication type:
Article
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.
Published in:
2005
By:
- Ravn, K.;
- Nielsen, J. B.;
- Schwartz, M.
Publication type:
Letter
Refinement of the chromosome 16 locus for benign familial infantile convulsions.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 517, doi. 10.1111/j.1399-0004.2005.00445.x
By:
- Callenbach, P. M. C.;
- van den Boogerd, E. H.;
- de Coo, R. F. M.;
- ten Houten, R.;
- Oosterwijk, J. C.;
- Hageman, G.;
- Frants, R. R.;
- Brouwer, O. F.;
- van den Maagdenberg, A. M. J. M
Publication type:
Article
Demented flies? usingDrosophilato model human neurodegenerative diseases.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 468, doi. 10.1111/j.1399-0004.2005.00448.x
By:
- Michno, K;
- van de Hoef, D;
- Wu, H;
- Boulianne, G. L.;
- McInnes, Roderick R.;
- Michaud, Jacques
Publication type:
Article
Common inactivating mutations in PCSK9 cause low LDL cholesterol.
Published in:
2005
By:
- Brunham, L. R.
Publication type:
Other
Is mitochondrial dysfunction a unifying feature of the metabolic syndrome?
Published in:
2005
Publication type:
Other
A heavy cross (over) to bear.
Published in:
2005
Publication type:
Other
Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer.
Published in:
Clinical Genetics, 2005, v. 67, n. 6, p. 481, doi. 10.1111/j.1399-0004.2005.00456.x
By:
- Cappelli, M.;
- Verma, S.;
- Korneluk, Y.;
- Hunter, A.;
- Tomiak, E.;
- Allanson, J.;
- DeGrasse, C.;
- Corsini, L.;
- Humphreys, L.
Publication type:
Article
Introduction to Social and Behavioural Research in Genetics.
Published in:
2005
By:
- Hayden, Michael R.;
- Biesecker, Barbara
Publication type:
Other
Corrigendum.
Published in:
2005
Publication type:
Correction Notice