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2002
Mark GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
Visapaa, Ilona ; Fellman, Vineta ^LU ; Vesa, Jouni ; Dasvarma, Ayan ; Hutton, Jenna L ; Kumar, Vijay ; Payne, Gregory S ; Makarow, Marja ; Van Coster, Rudy and Taylor, Robert W , et al. (2002) In American Journal of Human Genetics 71(4). p.863-876
- Contribution to journal › Article
Mark Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.
Lindgren, C M ; Mahtani, M M ; Widén, E ; McCarthy, M I ; Daly, M J ; Kirby, A ; Reeve, M P ; Kruglyak, L ; Parker, A and Meyer, J , et al. (2002) In American Journal of Human Genetics 70(2). p.509-516
- Contribution to journal › Article
2001
Mark Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height
Hirschhorn, J.N. ; Lindgren, Cecilia ^LU ; Daly, M.J. ; Kirby, A. ; Schaffner, S.F. ; Burtt, N.P. ; Altshuler, D. ; Parker, A. ; Rioux, J.D. and Platko, J. , et al. (2001) In American Journal of Human Genetics 69(1). p.106-116
- Contribution to journal › Article
Mark Essential genetics education for non-genetics health professionals (EC Project GenEd)
Harris, R ; Harris, H J ; Challen, K ; Ten Kate, L ; Schmidtke, J ; Nippert, I ; Reynier, C J and Kristoffersson, Ulf ^LU (2001) In American Journal of Human Genetics 69(4, Suppl.). p.433-433
- Contribution to journal › Article
Mark SR-B1 variants associated with HDL cholesterol levels in three populations
McCarthy, J J ; Lewitzky, S ; Permutt, A ; Glaser, B ; Groop, Leif ^LU and Meyer, J (2001) In American Journal of Human Genetics 69(4, Suppl.). p.383-383
- Contribution to journal › Article
Mark Linkage disequilibrium at PPARG and other genes assessed with dense sets of SNPs.
Hirschhorn, J.N. ; Altshuler, D. ; Daly, M.J. ; Lindgren, C.M. ; Burtt, N.P. ; Loomer, M. ; Villapakkam, A. ; Bolk, S. ; O'Donnell, C.J. and Crews, J.D. , et al. (2001) In American Journal of Human Genetics 69(4, Suppl. 1). p.522-522
- Contribution to journal › Article
Mark Limitations of chromosome classification by multicolor karyotyping
Lee, Charles ; Gisselsson Nord, David ^LU ; Jin, Charlotte ^LU ; Nordgren, Ann ; Ferguson, David O. ; Blennow, Elisabeth ; Fletcher, Jonathan A. and Morton, Cynthia C. (2001) In American Journal of Human Genetics 68(4). p.1043-1047
- Contribution to journal › Article
Mark Somatic mosaicism in hemophilia A: A fairly common event
Leuer, M. ; Lavergne, J.-M. ; Fregin, A. ; Eigel, A. ; Ljung, R. ^LU and Olek, K. (2001) In American Journal of Human Genetics 69(1). p.75-87
- Contribution to journal › Article
Mark Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
Zhao, F ; Weismann, C G ^LU ; Satoda, M ; Pierpont, M E ; Sweeney, E ; Thompson, E M and Gelb, B D (2001) In American Journal of Human Genetics 69(4). p.695-703
- Contribution to journal › Article
2000
Mark Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
Klomp, Leo W.J. ; De Koning, Tom J. ^LU ; Malingré, Helga E.M. ; Van Beurden, Ellen A.C.M. ; Brink, Miny ; Opdam, Frans L. ; Duran, Marinus ; Jaeken, Jaak ; Pineda, Merce and Van Maldergem, Lionel , et al. (2000) In American Journal of Human Genetics 67(6). p.1389-1399
- Contribution to journal › Article

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