Showing results (11-20 of 67) with videos related to

Sort By:
Pageof 7
Blood Pressure|January 10, 2019
Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndromeCaroline Henrard, Hendrica Belge, Sophie Fastré, et al.
Orphanet Journal of Rare Diseases|May 15, 2024
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimusEmmanuel Seront, Antoine Froidure, Nicole Revencu, et al.
Genes|October 27, 2019
Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate PatientsBénédicte Demeer, Nicole Revencu, Raphael Helaers, et al.
Atherosclerosis|February 20, 2016
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectivesClaudia Sanna, Xavier Stéphenne, Nicole Revencu, et al.
American Journal of Medical Genetics. Part A|April 5, 2014
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1Mercedes Bloch, Anissa Leonard, Andreas A Diplas, et al.
European Journal of Human Genetics : EJHG|November 6, 2024
Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC)Peyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Hepatology (Baltimore, Md.)|April 8, 2015
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2Sharat Varma, Nicole Revencu, Xavier Stephenne, et al.
Clinical Dysmorphology|April 5, 2019
Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndromeSébastien Mbuyi-Musanzayi, Eric I Kasamba, Nicole Revencu, et al.
The Journal of Pediatrics|April 28, 2009
Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2Arash Ghalamkarpour, Christian Debauche, Eric Haan, et al.
Journal of Medical Genetics|March 4, 2018
Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromesMirta Basha, Bénédicte Demeer, Nicole Revencu, et al.
Pageof 7