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Alexandre Fabre

Showing results (1-10 of 73) with videos related to

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Pediatric Emergency Care|February 9, 2016
Jinx or Not?: There Is Nothing Like a "Black Cloud" SyndromeAlexandre Fabre, Julien Mancini
Intractable & 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 Guerry
Intractable & Rare Diseases Research|October 6, 2022
Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (<i>ACTG2</i>, <i>MYH11</i>, <i>FLNA</i>, <i>MYLK</i>, <i>RAD21</i>, <i>MYL9</i> and <i>LMOD1</i>)Ninon Fournier, Alexandre Fabre
Intractable & Rare Diseases Research|March 9, 2022
No preferential mode of inheritance for highly constrained genesAlexandre Fabre, Julien Mancini
Intractable & Rare Diseases Research|October 6, 2022
When LUCA met gnomAD: genetic constraints on universal genes in humansAlexandre Fabre, Julien Mancini
Intractable & Rare Diseases Research|October 25, 2014
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsAlexandre Fabre, Catherine Badens
Archives 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 Morand
European Journal of Medical Genetics|May 21, 2026
Novelty and idiosyncrasy: the clay feet of rare disease descriptionsKarine Aouchiche, Paul Guerry, Alexandre Fabre
Intractable & Rare Diseases Research|December 4, 2024
PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseasesAlice Percheron, Paul Guerry, Alexandre Fabre
Journal of Pediatric Gastroenterology and Nutrition|November 2, 2016
Survey on Clinical Practice of Primary Prophylaxis in Portal Hypertension in ChildrenOdile Jeanniard-Malet, Mathieu Duché, Alexandre Fabre
Pageof 8

Showing results (1-10 of 73) with videos related to

Sort By:
Pageof 8
Pediatric Emergency Care|February 9, 2016
Jinx or Not?: There Is Nothing Like a "Black Cloud" SyndromeAlexandre Fabre, Julien Mancini
Intractable & 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 Guerry
Intractable & Rare Diseases Research|October 6, 2022
Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (<i>ACTG2</i>, <i>MYH11</i>, <i>FLNA</i>, <i>MYLK</i>, <i>RAD21</i>, <i>MYL9</i> and <i>LMOD1</i>)Ninon Fournier, Alexandre Fabre
Intractable & Rare Diseases Research|March 9, 2022
No preferential mode of inheritance for highly constrained genesAlexandre Fabre, Julien Mancini
Intractable & Rare Diseases Research|October 6, 2022
When LUCA met gnomAD: genetic constraints on universal genes in humansAlexandre Fabre, Julien Mancini
Intractable & Rare Diseases Research|October 25, 2014
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsAlexandre Fabre, Catherine Badens
Archives 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 Morand
European Journal of Medical Genetics|May 21, 2026
Novelty and idiosyncrasy: the clay feet of rare disease descriptionsKarine Aouchiche, Paul Guerry, Alexandre Fabre
Intractable & Rare Diseases Research|December 4, 2024
PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseasesAlice Percheron, Paul Guerry, Alexandre Fabre
Journal of Pediatric Gastroenterology and Nutrition|November 2, 2016
Survey on Clinical Practice of Primary Prophylaxis in Portal Hypertension in ChildrenOdile Jeanniard-Malet, Mathieu Duché, Alexandre Fabre
Pageof 8