Voici un recensement des publications des membres de RARE.Qc au cours des dernières semaines.
Articles:
- Christiane Auray-Blais: Lipidomic profiling in Cystic fibrosis
- Sasha Bernatsky: Inflammatory bowel disease & biosimilars
- Jean-Philippe Brosseau: TGFβ-induced myofibroblast activation
- Steve Bourgault: Islet Amyloid Polypeptide Aggregation
- Anne-Laure Lapeyraque & Alexandra Cambier: IgA nephropathy & Hydroxychloroquine
- Frank Rauch & Noémi Dahan-Oliel: Arthrogryposis Multiplex Congenita
- Noémi Dahan-Oliel : Artificial intelligence & Pediatric rehabilitation
- Frédéric Dallaire : Pediatric echocardiography Z-scores
- Simon Décary: Chronic non-cancer pain & Cross-cultural validation
- Nicolas Dupré:
- Lilit Antonyan & Carl Ernst: Hydrocephalus, SETBP1 & Antisense oligonucleotide
- Emilia Liana Falcone: Chronic granulomatous disease
- Christophe Faure : iPSCs & Development of the esophagus and trachea
- Stéphanie Forte : Stroke burden & Sickle cell disease
- Yves Pastore & Stéphanie Forte : Pediatric to adult transition in Sickle Cell Disease
- Roberta La Piana, Bernard Brais, Justine Dolbec & Cynthia Gagnon : Neuropsychological deficits in ARSACS
- Marc Germain : Mitochondrial elongation and activity
- Amadou Barry & Simon L Girard: Structure of regional population through genetics and genealogies
- Annie-Danielle Grenier : Partenariat-patient & Maladies rares
- William D. Foulkes & Lucie Jeannotte: Transcriptomics & Pleuropulmonary blastoma, Congenital pulmonary airway malformations
- David Langlais: Genomic diversity in Borrelia burgdorferi
- Roberta La Piana: Leukodystrophies & MS
- Alexandra Cambier & Anne-Laure Lapeyraque: Infectious risk & Complement inhibition
- Sarah Lippé: EEG & Fragile X Syndrome
- Suzanne N Morin : Bisphosphonates-associated atypical femur fracture
- Myriam Srour, Daniela Buhas & Kenneth A Myers : Mitochondrial DNA depletion disorders
- Kenneth A Myers : TANC2 & Developmental impairment and epilepsy
- William D Foulkes & Elena Netchiporouk : Hereditary leiomyomatosis and renal cell cancer syndrome
- Elena Netchiporouk : Chronic spontaneous urticaria & Comorbid autoimmune disorders
- Maryam Oskoui : Negative trials in rare diseases
- Alex Parker: ALS models in Zebrafish and C. elegans
- Thomas Pincez & Yves D Pastore: Molecular testing in sickle cell disease
- Thomas Pincez: Acute chest syndrome & Asthma
- Éric Racine: Clinical ethics situations
- Guy A. Rouleau
- François Routhier: Good practices in disabilities studies
- Laurent Cappadocia, Martine Tétreault & Éric Samarut: THAP12 & severe epileptic encephalopathy
- Adam J Shapiro: Primary Ciliary Dyskinesia
- Fabien Touzot: NOX2 deficiency & NLRP3 inflammasome
- Donald C Vinh: RIG-I deficiency & Kaposi sarcoma
- Paula J Waters: GC-MS/MS in Hypersuccinylacetonemias