Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 11

Results: 11

Deletion and duplication screening in the DMD gene using MLPA.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1231, doi. 10.1038/sj.ejhg.5201465
By:
- Lalic, Tanja;
- Vossen, Rolf H. A. M.;
- Coffa, Jordy;
- Schouten, Jan P.;
- Guc-Scekic, Marija;
- Radivojevic, Danijela;
- Djurisic, Marina;
- Breuning, Martÿn H;
- White, Stefan J.;
- den Dunnen, Johan T.
Publication type:
Article
Forty-two supernumerary marker chromosomes (SMCs) in 43 273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1192, doi. 10.1038/sj.ejhg.5201473
By:
- Bartsch, Oliver;
- Loitzsch, Anne;
- Kozlowski, Peter;
- Mazauric, Marie-Luise;
- Hickmann, Gabriele
Publication type:
Article
p.R270X MECP2 mutation and mortality in Rett syndrome.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1235, doi. 10.1038/sj.ejhg.5201479
By:
- Le Jian;
- Archer, Hayley L.;
- Ravine, David;
- Kerr, Alison;
- de Klerk, Nick;
- Christodoulou, John;
- Bailey, Mark E. S.;
- Laurvick, Crystal;
- Leonard, Helen
Publication type:
Article
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1186, doi. 10.1038/sj.ejhg.5201480
By:
- Faivre, Laurence;
- Saugier-Veber, Pascale;
- Pais de Barros, Jean-Paul;
- Verges, Bruno;
- Couret, Bertrand;
- Lorcerie, Bernard;
- Thauvin, Christel;
- Charbonnier, Françoise;
- Huet, Frédéric;
- Gambert, Philippe;
- Frebourg, Thierry;
- Duvillard, Laurence
Publication type:
Article
Association of the TSHR gene with Graves' disease: the first disease specific locus.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1223, doi. 10.1038/sj.ejhg.5201485
By:
- Dechairo, Bryan M.;
- Zabaneh, Delilah;
- Collins, Joanne;
- Brand, Oliver;
- Dawson, Gary J.;
- Green, Angie P.;
- Mackay, Ian;
- Franklyn, Jayne A.;
- Connell, John M.;
- Wass, John A. H.;
- Wiersinga, Wilmar M.;
- Hegedus, Laszlo;
- Brix, Thomas;
- Robinson, Bruce G.;
- Hunt, Penny J.;
- Weetman, Anthony P.;
- Carey, Alisoun H.;
- Gough, Stephen C.
Publication type:
Article
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1239, doi. 10.1038/sj.ejhg.5201486
By:
- Ghassibé, Michella;
- Bayet, Benedicte;
- Revencu, Nicole;
- Verellen-Dumoulin, Christine;
- Gillerot, Yves;
- Vanwijck, Romain;
- Vikkula, Miikka
Publication type:
Article
Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1.
Published in:
2005
By:
- Koolen, David A..;
- Knoers, Nine V. A. M.;
- Nillesen, Willy M.;
- Slabbers, Gordon H. P. R.;
- Smeets, Dominique;
- de Leeuw, Nicole;
- Sistermans, Erik A.;
- de Vries, Bert B. A.
Publication type:
Letter
Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1205, doi. 10.1038/sj.ejhg.5201488
By:
- Baptista, Julia;
- Prigmore, Elena;
- Gribble, Susan M.;
- Jacobs, Patricia A.;
- Carter, Nigel P.;
- Crolla, John A.
Publication type:
Article
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1213, doi. 10.1038/sj.ejhg.5201489
By:
- Gouas, Laetitia;
- Nicaud, Viviane;
- Berthet, Myriam;
- Forhan, Anne;
- Tiret, Laurence;
- Balkau, Beverley;
- Guicheney, Pascale
Publication type:
Article
The molecular genetics of haemochromatosis.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1172, doi. 10.1038/sj.ejhg.5201490
By:
- Le Gac, Gérald;
- Férec, Claude
Publication type:
Article
Technology: A genome sequencing center in every lab.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1167, doi. 10.1038/sj.ejhg.5201504
By:
- Zwick, Michael E.
Publication type:
Article