Show items per page
Elements: 4
Page 1 on 1
 TitleAuthors / EditorsDate
add to browser selection
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders Fokstuen, Siv; Makrythanasis, Periklis; Hammar Bouveret, Eva; Guipponi, Michel; ... Antonarakis, Stylianos 2016
add to browser selection
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration Murray, Aoife; Letourneau, Audrey; Canzonetta, Claudia; Stathaki, Elissavet; ... Nizetic, Dean 2015
add to browser selection
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan 2014
add to browser selection
DNA methylation profiles of human active and inactive X chromosomes Sharp, Andrew J; Stathaki, Elissavet; Migliavacca, Eugenia; Brahmachary, Manisha; ... Antonarakis, Stylianos 2011