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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Article de revueGenet Med, 22 (10), 2020.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Article de revueJ Inherit Metab Dis, 42 (1), 2019.
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report
Article de revueInt J Pediatr Otorhinolaryngol, 122 , 2019.
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Article de revueBr J Cancer, 121 (2), 2019.
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
Article de revueMol Genet Metab Rep, 14 , 2018.
Sustained complete response of recurrent glioblastoma to combined checkpoint inhibition in a young patient with constitutional mismatch repair deficiency
Article de revuePediatr Blood Cancer, 65 (12), 2018.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
Article de revueJ Hum Genet, 63 (3), 2018.
Musculo-mucous web velum and velopharyngeal dysfunction associated with 8q22.1-22.2 microduplication
Article de revueInt J Pediatr Otorhinolaryngol, 104 , 2018.
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Article de revueJ Med Genet, 54 (4), 2017.
The Québec NTBC Study
Article de revueAdv Exp Med Biol, 959 , 2017.