biomedicina slovenica


re="Hum Mol Genet" : 11

  1. Cho Michael H; Castaldi Peter J; Wan Emily S; Košnik Mitja
    A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13
    2012
  2. D'Adamo Patrizia; Welzl Hans; Papadimitriou Starvos; di Raffaele Maria Raffaela
    Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
    2002
  3. Bianchi Veronica; Farisello Pascualina; Baldelli Pietro; D'Adamo Patrizia
    Cognitive impairment in Gdi1-deficient mice is associated with altered synaptic vesicle pools and short-term synaptic plasticity, and can be corrected by appropriate learning training
    2009
  4. Stokin Gorazd B; Almenar-Queralt Angels; Gunawardena Shermali; Rodrigues Elizabeth M; Falzone Tomas; Kim Jungsu; Lillo Conception; Mount Stephanie L; Roberts Elizabeth A; McGowan Eileen
    Amyloid precursor protein-induced axonopathies are independent of amyloid-beta peptides
    2008
  5. Luthi-Carter Ruth; Hanson Sarah A; Strand Andrew D; Bergstrom Donald A; Chun Wanjoo; Peters Nikki L; Woods Annette M; Chan Edmond Y; Krainc Dimitri
    Dysregulation of gene expression in the R6/2 model of polyglutamine disease: parallel changes in muscle and brain
    2002
  6. Ribases M; Gratacos M; Fernandez-Aranda F; Bellodi L; Boni C; Anderluh M; Cavallini MC; Cellini E; Di Bella; Erzegovesi S; Foulon C; Gabrovsek M; Gorwood P; Hebebrand J; Hinney A; Holliday J; Hu X; Karwautz A; Kipman A; Komel R; Nacmias B; Remschmidt H; Ricca V; Sorbi S; Wagner G; Treasure J; Collier DA; Estivill X
    Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations
    2004
  7. Palmieri Luigi; Alberio Simona; Pisano Isabella; Lodi Tiziana; Meznarič-Petruša Mija; Zidar Janez; Santoro Antonella; Scarcia Pasquale; Fontanesi Flavia; Lamantea Eleonora
    Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is asoociated with mitochondrial myopathy and cardiomyopathy
    2005
  8. Pritchard Lynn; Sloane-Stanley Jackie; Sharpe Jackie A; Aspinwall Richard LU Weining; Buckle Veronica; Strmecki Lana; Walker Denise; Ward Christopher J; Alpers Charles E; Zhou Jing
    A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype
    2000
  9. Smahi A; Hyden-Granskog C; Peterlin B; Vabres P; Heuertz S; Fulchignoni-Lataud MC; Dahl N; Labrune P; Le Marec B; Piussan C
    The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
    1994
  10. Ravnik-Glavač M; Glavač D; Dean M
    Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene
    1994
  11. Glavač Damjan; Ravnik-Glavač Metka; Dean Michael
    Identification of a rare cystic fibrosis mutation (S4X) in a Slovenian population
    1993


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