39 results on '"Somerville, Martin J."'
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2. Protocol for a Prospective, Observational Cost-effectiveness Analysis of Returning Secondary Findings of Genome Sequencing for Unexplained Suspected Genetic Conditions
3. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations
4. Regulation of Genetic Testing/Service in Canada
5. Report of an International Survey of Molecular Genetic Testing Laboratories
6. Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
7. On-chip HA/SSCP for the detection of hereditary haemochromatosis
8. Global variation in copy number in the human genome
9. Severe expressive-language delay related to duplication of the Williams-Beuren locus
10. Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells
11. Microduplication and triplication of 22q11.2: a highly variable syndrome
12. Homocysteine is not associated with global motor or cognitive measures in nondemented older Parkinsonʼs disease patients
13. Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
14. Brief Report: Severe Expressive-Language Delay Related to Duplication of the Williams-Beuren Locus
15. Neurofilament Light and Polyadenylated mRNA Levels Are Decreased in Amyotrophic Lateral Sclerosis Motor Neurons
16. 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
17. Toward Optimal Detection of the Common Prenatal Aneuploidies by Quantitative Fluorescent–Polymerase Chain Reaction: Comparison of Two Commercial Assays
18. Newborn screening for cystic fibrosis in Alberta: Two years of experience
19. Homocysteine is not associated with global motor or cognitive measures in nondemented older Parkinson's disease patients
20. Involvement of ApoE E4 and H63D in Sporadic Alzheimer's Disease in a Folate-Supplemented Ontario Population
21. Report of an International Survey of Molecular Genetic Testing Laboratories
22. Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3
23. Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
24. Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis
25. Heteroduplex-Based Genotyping with Microchip Electrophoresis and dHPLC
26. 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.
27. An HFE Intronic Variant Promotes Misdiagnosis of Hereditary Hemochromatosis
28. Clinical application of the molecular diagnosis of spinal muscular atrophy: Deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes
29. Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue
30. Copper/zinc superoxide dismutase mRNA levels are increased in sporadic amyotrophic lateral sclerosis motorneurons
31. 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
32. Reduction of calbindin-28k mRNA levels in Alzheimer as compared to Huntington hippocampus
33. Age-associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease
34. Reduction of vitamin D hormone receptor mRNA levels in Alzheimer as compared to Huntington hippocampus: correlation with calbindin-28k mRNA levels
35. Localization and quantitation of 68 kDa neurofilament and superoxide dismutase-1 mRNA in alzheimer brains
36. Autoimmune thyroiditis associated with mild “subclinical” hypothyroidism in adults with down syndrome: A comparison of patients with and without manifestations of Alzheimer disease
37. Localization of the 68 000-Da human neurofilament gene (NF68) using a murine cDNA probe
38. Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus.
39. A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots.
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