Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil.
Genetics And Molecular Biology
Nakazone, Marcelo A MA; De Marchi, Miguel A MA; Pinhel, Marcela A S MA; Barros, Carolina F D C CF; Júlio, Maysa A F MA; Pinheiro, Anielli A; Arazi, Simone S SS; Hotta, Júlia K JK; Hirata, Mário H MH; Hirata, Rosario D C RD; Dos Santos, José E JE; Souza, Dorotéia R S DR