X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

Por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Publicado em 2014

Linkage and association analysis of CACNG3 in childhood absence epilepsy

Por Everett, Kate, Chioza, Barry, Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dulac, Olivier, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens, Goutieres, Françoise, Guerrini, Renzo, Heils, Armin, Kjeldsen, Marianne, Lehesjoki, Anna-Elina, Makoff, Andrew, Nabbout, Rima, Olsson, Ingrid, Sander, Thomas, Sirén, Auli, McKeigue, Paul, Robinson, Robert, Taske, Nichole, Rees, Michele, Gardiner, Mark
Publicado em 2007

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14

Por Chioza, Barry A., Aicardi, Jean, Aschauer, Harald, Brouwer, Oebele, Callenbach, Petra, Covanis, Athanasios, Dooley, Joseph M., Dulac, Olivier, Durner, Martina, Eeg-Olofsson, Orvar, Feucht, Martha, Friis, Mogens Laue, Guerrini, Renzo, Kjeldsen, Marianne Juel, Nabbout, Rima, Nashef, Lina, Sander, Thomas, Sirén, Auli, Wirrell, Elaine, McKeigue, Paul, Robinson, Robert, Gardiner, R. Mark, Everett, Kate V.
Publicado em 2009