Showing results (1-10 of 333) with videos related to
Sort By:
Pageof 34
Pediatric Emergency Care|February 9, 2016
Jinx or Not?: There Is Nothing Like a "Black Cloud" SyndromeAlexandre Fabre, Julien ManciniIntractable & Rare Diseases Research|October 6, 2022
When LUCA met gnomAD: genetic constraints on universal genes in humansAlexandre Fabre, Julien ManciniIntractable & Rare Diseases Research|March 9, 2022
No preferential mode of inheritance for highly constrained genesAlexandre Fabre, Julien ManciniInternational Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition|December 16, 2014
Antioxidant potential is correlated to ω6 / ω3 ratio and Brasfield score in cystic fibrosis childrenAlexandre Fabre, Sylvie Caspar-Bauguil, Jean Gaudart, et al.Bulletin Du Cancer|November 13, 2017
[Why and how to promote decision-making autonomy of cancer patients?]Julien ManciniIntractable & Rare Diseases Research|June 9, 2025
Pathonign variants in recessive disorders: How extremely hypomorphic variants can be pathogenic and benign depending on the allele in transAlexandre Fabre, Paul GuerryIntractable & Rare Diseases Research|October 6, 2022
Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1)Ninon Fournier, Alexandre FabreIntractable & Rare Diseases Research|October 25, 2014
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsAlexandre Fabre, Catherine BadensArchives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 5, 2025
Hepatitis in the time of pandemics: A comparative bibliometric analysis of early publications on MIS-C, acute hepatitis of unknown aetiology and MpoxAlexandre Fabre, Paul Guerry, Aurélie MorandEuropean Journal of Medical Genetics|May 21, 2026
Novelty and idiosyncrasy: the clay feet of rare disease descriptionsKarine Aouchiche, Paul Guerry, Alexandre FabrePageof 34