Results 1 to 10 of about 18,524 (210)

Rare diseases load through the study of a regional population. [PDF]

PLoS Genetics
Rare genetic diseases impact many people worldwide and are challenging to diagnose. In this study, we introduce a novel regional population cohort approach to identify pathogenic variants causing Mendelian diseases that occur more frequently within ...
Élisa Michel, Claudia Moreau, Laurence Gagnon, Mylène Gagnon, Josianne Leblanc, Jessica Tardif, Lysanne Girard, Jean Mathieu, Cynthia Gagnon, Mathieu Desmeules, Jean-Denis Brisson, Luigi Bouchard, Simon L Girard   +12 more
doaj   +2 more sources

Identification of a novel SACS gene mutation leading to spastic ataxia Charlevoix-Saguenay type: a case report [PDF]

Journal of Medical Case Reports
Background Spastic ataxia Charlevoix-Saguenay is a rare autosomal recessive neurodegenerative disorder characterized by a combination of spasticity, ataxia, and peripheral neuropathy.
Víctor Raggio, Andrea Rey, Camila Simoes, Florencia Birriel, Soledad Rodriguez, Kateryn Bentancor, Alejandra Tapié, Lucía Spangenberg   +7 more
doaj   +2 more sources

Evaluation of the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene): protocol for an implementation pilot study [PDF]

BMJ Open
Introduction MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene.
Marie-Ève Poitras, Luigi Bouchard, Samuel Legeay, Vanessa Tremblay-Vaillancourt, Amélie Fournier, Josianne Leblanc, Philippe Caron, Catherine Savard, Nathalie Bettez, Karine Tremblay   +9 more
doaj   +2 more sources

Le Saguenay [PDF]

Études françaises, 1970
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openaire   +4 more sources

Expression signature of the Leigh syndrome French-Canadian type

Molecular Genetics and Metabolism Reports, 2022
As a result of a founder effect, a Leigh syndrome variant called Leigh syndrome, French-Canadian type (LSFC, MIM / 220,111) is more frequent in Saguenay–Lac-Saint-Jean (SLSJ), a geographically isolated region on northeastern Quebec, Canada.
Mbarka Bchetnia, Jessica Tardif, Charles Morin, Catherine Laprise   +3 more
doaj   +1 more source

Cardiac and pleuropulmonary involvement in Erdheim-Chester disease without bone lesions: A case report

Radiology Case Reports, 2022
Erdheim–Chester disease is a rare multisystemic non-Langerhans histiocytosis characterized by histiocytes that stain positive for CD68 and negative for CD1a.
Rene Epunza Kanza, MD, PhD, Olivier Houle, MS, Pierre-Luc Simard, MD, Jonathan St-Gelais, MD, Catherine Raymond, MD   +4 more
doaj   +1 more source

Investigation on electrical conductivity and hardness of 6xxx aluminum conductor alloys with different Si levels [PDF]

MATEC Web of Conferences, 2020
The impact of Si levels on electrical conductivity (EC) and hardness in Al-Mg-Si 6xxx aluminum conductor alloys was studied at different aging times. Three experimental alloys with the Si levels of 0.4, 0.66, 0.89 wt.% containing a constant Mg content of
Nikzad Khangholi Siamak, Javidani Mousa, Maltais Alexandre, Chen X.-Grant   +3 more
doaj   +1 more source

Urbanité et centralité : Le paradoxe des villes moyennes périphériques

Lucrările Seminarului Geografic "Dimitrie Cantemir", 2020
La ville est souvent décrite comme le lieu de la centralité maximale. Les réseaux matériels et immatériels convergent vers celle-ci alors que la densité généralement forte d’activités, de personnes et d’infrastructures physico-spatiales favorise les ...
Martin Simard
doaj   +1 more source

Psychological, Physical and Behavioral Health of Adults, 3 Years After Exposure to a Train Derailment

Inquiry: The Journal of Health Care Organization, Provision, and Financing, 2022
In July 2013, a train derailment profoundly disrupted the tranquility of the population of Lac-Mégantic for months and even years. In 2016, we conducted a representative population-based survey among 387 people from Lac-Mégantic and 413 from other ...
Danielle Maltais PhD, Mélissa Généreux MD, Mathieu Roy PhD, Geneviève Fortin MSC, Eve Pouliot PhD, Christiane Bergeron-Leclerc PhD, Jacques Cherblanc PhD, Oscar Labra PhD, Lise Lachance PhD, Linda Paquette PhD   +9 more
doaj   +1 more source

Industry 4.0: Correlation Analysis Applied to the Hot Stamping of AA7075 B-Pillars Pre-Assembled Using Friction Stir Welding

Engineering Proceedings, 2023
In this study, 220 AA7075-T6 B-pillars were fabricated using a thoroughly instrumented hot-stamping press under varied conditions. Feature engineering work identified nineteen attributes of the hot-stamping process as impacting four characteristics of ...
Mohamad Idriss, Guillaume D’Amours, François Nadeau, Danick Gallant, Ryan Myers   +4 more
doaj   +1 more source