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Encyclopaedia

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Q fever
- Clinical practice guidelines
  English (2013.pdf) - Centers for Disease Control and Prevention
QRSL1-related combined oxidative phosphorylation defect
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Quadricuspid aortic valve
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Qualitative or quantitative defects of caveolin-3
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2012) - GeneReviews
Qualitative or quantitative defects of collagen 6
- Clinical genetics review
  English (2021) - GeneReviews
Qualitative or quantitative defects of dysferlin
- Clinical genetics review
  English (2021) Dysferlinopathy - GeneReviews
Quantitative and/or qualitative congenital phagocyte defect
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Quebec platelet disorder
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF