Show items per page
Elements: 4
Page 1 on 1
 TitleAuthors / EditorsDate
add to browser selection
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
add to browser selection
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations Ducamp, Sarah; Kannengiesser, Caroline; Touati, Mohamed; Garçon, Loïc; ... Grandchamp, Bernard 2011
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
add to browser selection
Large-scale population study of human cell lines indicates that dosage compensation is virtually complete Johnston, Colette M.; Lovell, Frances L.; Leongamornlert, Daniel A.; Stranger, Barbara E.; ... Ross, Mark T. 2008