17 results on '"Langlois, Sylvie"'
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2. Implementation of the BC Congenital Anomalies Surveillance System (BCCASS)
3. A Hierarchical Bayes Approach to Modeling Heterogeneity in Discrete Choice Experiments: An Application to Public Preferences for Prenatal Screening
4. Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study
5. A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
6. Recurrent somatic BRAF insertion (p.V504_R506dup): a tumor marker and a potential therapeutic target in pilocytic astrocytoma
7. Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
8. Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy
9. Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals
10. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
11. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
12. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
13. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
14. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
15. Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
16. The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia
17. Parental origin of triploidy in human fetuses: evidence for genomic imprinting
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