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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

Journal of medical genetics, 2005-08, Vol.42 (8), p.639-647

2005

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Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

Clinical genetics, 2010-08, Vol.78 (2), p.162-168

2010

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260 A novel missense SCN5A gene mutation causing LQT3 in a large first nations family

Canadian journal of cardiology, 2011-09, Vol.27 (5), p.S156-S157

2011

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Newborns with C 8 ‐acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

Journal of inherited metabolic disease, 2005-08, Vol.28 (4), p.551-556

2005

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A novel SCN5A gene mutation causing LQT3 with unique phenotype in a large canadian kindred

European heart journal, 2020-11, Vol.41 (Supplement_2)

2020

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Newborns with C8‐acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

Journal of inherited metabolic disease, 2005, Vol.28 (4), p.551-556

2005

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Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S176-S177

2017

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NG.O.13 - Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S176-S177

2017

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Outcomes of patients treated through the Canadian Fabry disease initiative

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.499-506

2014

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The first inborn error of manganese metabolism caused by mutations in SLC30A10 , a newly identified manganese transporter

The Lancet (British edition), 2013-02, Vol.381, p.S110-S110

2013

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Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Genetics in medicine, 2013-06, Vol.15 (6), p.415-422

2013

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Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

BMC pediatrics, 2015-02, Vol.15 (1), p.7-7, Article 7

2015

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An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1

Genetics in medicine, 2007-08, Vol.9 (8), p.544-550

2007

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Mixed Donor Chimerism and Low Level Iduronidase Expression May be Adequate for Neurodevelopmental Protection in Hurler Syndrome

The Journal of pediatrics, 2005-07, Vol.147 (1), p.106-108

2005

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The Expanding Spectrum of Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency (Mcadd) from Trait to Lethality: Mcadd Experience Using the Canadian Paediatric Surveillance Program

Paediatrics & child health, 2009-05, Vol.14 (suppl_A), p.26-26A

2009

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Cross-sectional analysis of renal disease in the Nova Scotia Fabry disease kindred

Acta Paediatrica, 2002-11, Vol.91 (s439), p.126-126

2002

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A Nova Scotia kindred with Fabry disease

Acta Paediatrica, 2002-11, Vol.91 (s439), p.116-116

2002

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Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19

Prenatal diagnosis, 1999-09, Vol.19 (9), p.832-836

1999

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Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

American journal of medical genetics, 2004-12, Vol.131A (3), p.318-319

2004

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Testing Temporal Stability of Recreation Values

Ecological economics, 2019-05, Vol.159, p.75-83

2019

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Saving freshwater from salts

Science (American Association for the Advancement of Science), 2016-02, Vol.351 (6276), p.914-916

2016

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Regulations are needed to protect freshwater ecosystems from salinization

Philosophical transactions of the Royal Society of London. Series B. Biological sciences, 2018-12, Vol.374 (1764)

2018

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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

American journal of human genetics, 2013-08, Vol.93 (2), p.398-404

2013

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Intrafamilial variability in late-onset CLN2 disease

Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S66-S67

2020

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Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

American journal of human genetics, 2012-03, Vol.90 (3), p.457-466

2012

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In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients

Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

260 A novel missense SCN5A gene mutation causing LQT3 in a large first nations family

Newborns with C 8 ‐acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

A novel SCN5A gene mutation causing LQT3 with unique phenotype in a large canadian kindred

Newborns with C8‐acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation

Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

NG.O.13 - Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathy

Outcomes of patients treated through the Canadian Fabry disease initiative

The first inborn error of manganese metabolism caused by mutations in SLC30A10 , a newly identified manganese transporter

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease

An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1

Mixed Donor Chimerism and Low Level Iduronidase Expression May be Adequate for Neurodevelopmental Protection in Hurler Syndrome

The Expanding Spectrum of Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency (Mcadd) from Trait to Lethality: Mcadd Experience Using the Canadian Paediatric Surveillance Program

Cross-sectional analysis of renal disease in the Nova Scotia Fabry disease kindred

A Nova Scotia kindred with Fabry disease

Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

Testing Temporal Stability of Recreation Values

Saving freshwater from salts

Regulations are needed to protect freshwater ecosystems from salinization

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Intrafamilial variability in late-onset CLN2 disease

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

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