31 results on '"Somerville, Martin J."'
Search Results
2. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
3. Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
4. Regulation of Genetic Testing/Service in Canada
5. Risk Factors for Development of Dementia in a Unique Six-Year Cohort Study. I. An Exploratory, Pilot Study of Involvement of the E4 Allele of Apolipoprotein E, Mutations of the Hemochromatosis-HFE Gene, Type 2 Diabetes, and Stroke
6. Toward Optimal Detection of the Common Prenatal Aneuploidies by Quantitative Fluorescent–Polymerase Chain Reaction: Comparison of Two Commercial Assays
7. Newborn screening for cystic fibrosis in Alberta: Two years of experience
8. Homocysteine is not associated with global motor or cognitive measures in nondemented older Parkinson's disease patients
9. Involvement of ApoE E4 and H63D in Sporadic Alzheimer's Disease in a Folate-Supplemented Ontario Population
10. Report of an International Survey of Molecular Genetic Testing Laboratories
11. Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
12. Global variation in copy number in the human genome
13. Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus
14. On-chip HA/SSCP for the detection of hereditary haemochromatosis
15. Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells
16. Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
17. Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
18. Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis
19. Heteroduplex-Based Genotyping with Microchip Electrophoresis and dHPLC
20. An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis
21. Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes
22. Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
23. Copper/zinc superoxide dismutase mRNA levels are increased in sporadic amyotrophic lateral sclerosis motorneurons
24. Neurofilament Light and Polyadenylated mRNA Levels Are Decreased in Amyotrophic Lateral Sclerosis Motor Neurons
25. Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization
26. Reduction of calbindin-28k mRNA levels in Alzheimer as compared to Huntington hippocampus
27. Age-associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease
28. Reduction of vitamin D hormone receptor mRNA levels in Alzheimer as compared to Huntington hippocampus: correlation with calbindin-28k mRNA levels
29. Localization and quantitation of 68 kDa neurofilament and superoxide dismutase-1 mRNA in alzheimer brains
30. Autoimmune thyroiditis associated with mild “subclinical” hypothyroidism in adults with down syndrome: A comparison of patients with and without manifestations of Alzheimer disease
31. Localization of the 68 000-Da human neurofilament gene (NF68) using a murine cDNA probe
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