29 results on '"Barrie, Elizabeth S."'
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2. Advances in Cell-Free DNA
3. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene
4. Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant
5. Contributors
6. Nicotine Dependence and the CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome
7. Testing Genetic Modifiers of Behavior and Response to Atomoxetine in Autism Spectrum Disorder with ADHD
8. Severe Graft-Versus-Host Disease Following Solid-Organ Transplant Confirmed by Chimerism Studies and Cytogenetic Analyses
9. Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
10. The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations
11. eP450: Effectiveness and utility of noninvasive prenatal screening (NIPS) for sex chromosome aneuploidies
12. Trisomy 3 and CBFA2T3-GLIS2 fusion in a child with acute megakaryoblastic leukemia without Down syndrome
13. Optical genomic mapping reveals balanced and unbalanced cytogenetic findings associated with tumor-forming potential in a prostate cancer cell line (M2205)
14. A rare 2p11.2 microdeletion in an infant with T cell lymphopenia and an abnormal newborn screen for severe combined immunodeficiency
15. Expanding the spectrum of CEP55 ‐associated disease to viable phenotypes
16. Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss
17. De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf–Hirschhorn syndrome
18. Alpha‐synuclein mRNA isoform formation and translation affected by polymorphism in the human SNCA 3ʹUTR
19. TheCHRNA5/CHRNA3/CHRNB4Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations
20. Human Bacterial Artificial Chromosome (BAC) Transgenesis Fully Rescues Noradrenergic Function in Dopamine β-Hydroxylase Knockout Mice
21. Regulatory effects of genomic translocations at the human carboxylesterase-1 (CES1) gene locus
22. Role of ITGAE in the development of autoimmune diabetes in non-obese diabetic mice
23. Regulatory Polymorphisms in Human DBH Affect Peripheral Gene Expression and Sympathetic Activity
24. mRNA Transcript Diversity Creates New Opportunities for Pharmacological Intervention
25. Role of ITGAE in the development of autoimmune diabetes in non-obese diabetic mice.
26. eP375 - A rare 2p11.2 microdeletion in an infant with T cell lymphopenia and an abnormal newborn screen for severe combined immunodeficiency.
27. eP388 - Optical genomic mapping reveals balanced and unbalanced cytogenetic findings associated with tumor-forming potential in a prostate cancer cell line (M2205).
28. eP066 - Trisomy 3 and CBFA2T3-GLIS2 fusion in a child with acute megakaryoblastic leukemia without Down syndrome.
29. De novo loss-of-function variants in NSD2 ( WHSC1 ) associate with a subset of Wolf-Hirschhorn syndrome.
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