Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 4

Results: 10

Disease-associated mutations in conserved residues of ALK-1 kinase domain.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 279, doi. 10.1038/sj.ejhg.5200919
By:
- Abdalla, Salma A;
- Cymerman, Urszula;
- Johnson, Rachel M;
- Deber, Charles M;
- Letarte, Michelle
Publication type:
Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
By:
- Conti, Emanuela;
- Grifone, Nicoletta;
- Sarkozy, Anna;
- Tandoi, Caterina;
- Marino, Bruno;
- Digilio, Maria Cristina;
- Mingarelli, Rita;
- Pizzuti, Antonio;
- Dallapiccola, Bruno
Publication type:
Article
PNA on human sperm: a new approach for in situ aneuploidy estimation.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 337, doi. 10.1038/sj.ejhg.5200958
By:
- Pellestor, Franck;
- Andreo, Brigitte;
- Taneja, Krihan;
- Williams, Brett
Publication type:
Article
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 352, doi. 10.1038/sj.ejhg.5200959
By:
- Raynaud, Martine;
- Dessay, Sabine;
- Ronce, Nathalie;
- Opitz, John;
- Pembrey, Marcus;
- Romano, Corrado;
- Moraine, Claude;
- Briault, Sylvain
Publication type:
Article
Apparent intrachromosomal exchange on the human Y chromosome explained by population history.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 304, doi. 10.1038/sj.ejhg.5200960
By:
- Kittler, Ralf;
- Erler, Axel;
- Brauer, Silke;
- Stoneking, Mark;
- Kayser, Manfred
Publication type:
Article
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 288, doi. 10.1038/sj.ejhg.5200961
By:
- Yakobson, Emanuel;
- Eisenberg, Shlomit;
- Isacson, Ruth;
- Halle, David;
- Levy-Lahad, Efrat;
- Catane, Raphael;
- Safro, Mark;
- Sobolev, Vladimir;
- Huot, Thomas;
- Peters, Gordon;
- Ruiz, Anna;
- Malvehy, Josep;
- Puig, Suzana;
- Chompret, Agnes;
- Avril, Marie-Fracoise;
- Shafir, Raphael;
- Peretz, Hava;
- Paillerets, Brigitte Bressac-de
Publication type:
Article
Chromosome instability and nibrin protein variants in NBS heterozygotes.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 297, doi. 10.1038/sj.ejhg.5200962
By:
- Tanzarella, Caterina;
- Antoccia, Antonio;
- Spadoni, Emanuela;
- Masi, Alessandra di;
- Pecile, Vanna;
- Demori, Eliana;
- Varon, Raymonda;
- Marseglia, Gian Luigi;
- Tiepolo, Luciano;
- Maraschio, Paola
Publication type:
Article
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 315, doi. 10.1038/sj.ejhg.5200963
By:
- Kamnasaran, Deepak;
- O'Brien, Patricia C;
- Zackai, Elaine H;
- Muenke, Maximilian;
- Ferguson-Smith, Malcolm A;
- Cox, Diane W
Publication type:
Article
Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 342, doi. 10.1038/sj.ejhg.5200964
By:
- Robinson, R L;
- Anetseder, M J;
- Brancadoro, V;
- van Broekhoven, C;
- Carsana, A;
- Censier, K;
- Fortunato, G;
- Girard, T;
- Heytens, L;
- Hopkins, P M;
- Jurkat-Rott, K;
- Klinger, W;
- Kozak-Ribbens, G;
- Krivosic, R;
- Monnier, N;
- Nivoche, Y;
- Olthoff, D;
- Rueffert, H;
- Sorrentino, V
Publication type:
Article
Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200965
By:
- Pujol, Aida;
- Boiso, Irene;
- Benet, Jordi;
- Veiga, Anna;
- Durban, Merce;
- Campillo, Mercedes;
- Egozcue, Josep;
- Navarro, Joaquima
Publication type:
Article