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Erratum to: Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease.
- Published in:
- 2016
- By:
- Publication type:
- corrected article
Trimethylamine-N-oxide: A Novel Biomarker for the Identification of Inflammatory Bowel Disease.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical and Mutation Spectra of Cockayne Syndrome in India.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cover Image, Volume 58, Number 7, July 2023.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 7, p. i, doi. 10.1002/ppul.26552
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- Publication type:
- Article
First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit.
- Published in:
- Pediatric Pulmonology, 2023, v. 58, n. 7, p. 1942, doi. 10.1002/ppul.26414
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- Publication type:
- Article
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
- Published in:
- 2021
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- Publication type:
- journal article
Is raising HDL a futile strategy for atheroprotection?
- Published in:
- Nature Reviews Drug Discovery, 2008, v. 7, n. 2, p. 143, doi. 10.1038/nrd2489
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- Publication type:
- Article
Progression to hepatitis and fibrosis secondary to lomitapide use-reply.
- Published in:
- 2014
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- Publication type:
- Journal Article
Progression to Hepatitis and Fibrosis Secondary to Lomitapide Use: Selecting the Next Course of Action.
- Published in:
- JAMA Internal Medicine, 2014, v. 174, n. 9, p. 1522, doi. 10.1001/jamainternmed.2014.1538
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- Publication type:
- Article
Severe hypertriglyceridemia with pancreatitis: thirteen years' treatment with lomitapide.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Severe Hypertriglyceridemia With Pancreatitis.
- Published in:
- JAMA Internal Medicine, 2014, v. 174, n. 3, p. 443, doi. 10.1001/jamainternmed.2013.13309
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- Publication type:
- Article
Genetic variation in paraoxonase-2 is associated with variation in plasma lipoproteins in Canadian Oji-Cree.
- Published in:
- Clinical Genetics, 1998, v. 54, n. 5, p. 394, doi. 10.1111/j.1399-0004.1998.tb03752.x
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- Publication type:
- Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-126
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- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
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- Publication type:
- Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Abetalipoproteinemia: two case reports and literature review.
- Published in:
- 2008
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- Publication type:
- Case Study
Alstrom syndrome (OMIM 203800): a case report and literature review.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 49, doi. 10.1186/1750-1172-2-49
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- Publication type:
- Article
Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.
- Published in:
- Genome, 2006, v. 49, n. 11, p. 1343, doi. 10.1139/G06-147
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- Publication type:
- Article
Introduction / Introduction.
- Published in:
- Genome, 2006, v. 49, n. 11, p. iii
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- Publication type:
- Article
Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Lamin mutations come of age.
- Published in:
- Nature Medicine, 2003, v. 9, n. 6, p. 644, doi. 10.1038/nm0603-644
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- Publication type:
- Article
The envelope, please: Nuclear lamins and disease.
- Published in:
- Nature Medicine, 2000, v. 6, n. 2, p. 136, doi. 10.1038/72221
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- Publication type:
- Article
Perivascular spaces, plasma GFAP, and speeded executive function in neurodegenerative diseases.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. 8, p. 5800, doi. 10.1002/alz.14081
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- Publication type:
- Article
Association of plasma biomarkers with cognitive domains across three neurodegenerative diseases and cerebrovascular disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.079139
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- Publication type:
- Article
The moderating effect of APOE E4 on the association of plasma biomarkers with markers of cognition and brain health in Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.079202
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- Publication type:
- Article
Association of plasma biomarkers with imaging markers of brain atrophy and white matter disease across three neurodegenerative diseases and cerebrovascular disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.079189
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- Publication type:
- Article
Peripheral blood leukotriene B4 and E4 as biomarkers in Alzheimer's disease.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 6, p. 1, doi. 10.1002/alz.068991
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- Publication type:
- Article
Abnormal brain structure mediates the association between ApoE4 and slow gait among patients with pathological cognitive impairment: Results from the Ontario Neurodegenerative Research Initiative: Neuropsychiatry and behavioral neurology: Novel risk factors and novel approaches to risk in dementia
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 6, p. 1, doi. 10.1002/alz.044540
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- Publication type:
- Article
Abnormal brain structure mediates the association between ApoE4 and slow gait among patients with pathological cognitive impairment: Results from the Ontario Neurodegenerative Research Initiative: Neuropsychiatry and behavioral neurology: Novel risk factors and novel approaches to risk in dementia
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.044540
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- Publication type:
- Article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e106, doi. 10.1111/epi.12730
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- Publication type:
- Article
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Hoofbeats, zebras, and insights into insulin resistance.
- Published in:
- 2009
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- Publication type:
- journal article
Hoofbeats, zebras, and insights into insulin resistance.
- Published in:
- Journal of Clinical Investigation, 2009, v. 119, n. 2, p. 237, doi. 10.1172/JCI38420
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- Publication type:
- Article
Unbuckling lipodystrophy from insulin resistance and hypertension.
- Published in:
- Journal of Clinical Investigation, 2004, v. 114, n. 2, p. 163, doi. 10.1172/JCI200422382
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- Publication type:
- Article
Treatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 3, p. 1, doi. 10.1210/jcemcr/luad058
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- Publication type:
- Article
Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1.
- Published in:
- SAGE Open Medical Case Reports, 2018, v. 6, p. 1, doi. 10.1177/2050313X18818711
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- Publication type:
- Article
Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 934, doi. 10.1007/s10038-006-0042-0
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- Publication type:
- Article
Cockayne syndrome type A: novel mutations in eight typical patients.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 701, doi. 10.1007/s10038-006-0011-7
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- Publication type:
- Article
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 1, p. 61
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- Publication type:
- Article
DNA polymorphisms of lipase related genes.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 8, p. 443, doi. 10.1007/s10038-003-0051-1
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- Publication type:
- Article
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 5, p. 271, doi. 10.1007/s10038-003-0025-3
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- Publication type:
- Article
Single nucleotide polymorphisms of the resistin (RSTN) gene.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 9, p. 553, doi. 10.1007/s100380170040
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- Publication type:
- Article
Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 92, doi. 10.1007/s100380050018
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- Publication type:
- Article
Human cathepsin S gene (CTSS) promoter -25G/A polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 94, doi. 10.1007/s100380050019
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- Publication type:
- Article
Human hepatocyte nuclear factor-1β (HNF1B) 1968A/G polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 98, doi. 10.1007/s100380050021
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- Publication type:
- Article
Human C-reactive protein (CRP) 1059G/C polymorphism.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 2, p. 100, doi. 10.1007/s100380050022
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- Publication type:
- Article
The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 4, p. 225, doi. 10.1007/s100380050148
- By:
- Publication type:
- Article
Cover Image, Volume 177B, Number 1, January 2018.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. i, doi. 10.1002/ajmg.b.32617
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- Publication type:
- Article
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 75, doi. 10.1002/ajmg.b.32606
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- Publication type:
- Article