Nelly Burnichon
AuthID: R-00H-NTC
1
TITLE: Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis Full Text
AUTHORS: Karaghiannis, Valena; Maric, Darko; Garrec, Celine; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loic; Antunes, Vincent; Airaud, Fabrice; Aral, Bernard; Le Roy, Amandine; Corbineau, Sebastien; Mansour Hendili, Lamisse; Lesieur, Valentine; Rimbert, Antoine; Laporte, Fabien; Delamare, Marine; Rab, Mink; Bezieau, Stephane; Cassinat, Bruno; Galacteros, Frederic; ...More
PUBLISHED: 2023, SOURCE: HAEMATOLOGICA, VOLUME: 108, ISSUE: 6
AUTHORS: Karaghiannis, Valena; Maric, Darko; Garrec, Celine; Maaziz, Nada; Buffet, Alexandre; Schmitt, Loic; Antunes, Vincent; Airaud, Fabrice; Aral, Bernard; Le Roy, Amandine; Corbineau, Sebastien; Mansour Hendili, Lamisse; Lesieur, Valentine; Rimbert, Antoine; Laporte, Fabien; Delamare, Marine; Rab, Mink; Bezieau, Stephane; Cassinat, Bruno; Galacteros, Frederic; ...More
PUBLISHED: 2023, SOURCE: HAEMATOLOGICA, VOLUME: 108, ISSUE: 6
INDEXED IN: WOS
2
TITLE: Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease
AUTHORS: Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couve; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; ...More
PUBLISHED: 2018, SOURCE: BLOOD, VOLUME: 132, ISSUE: 5
AUTHORS: Marion Lenglet; Florence Robriquet; Klaus Schwarz; Carme Camps; Anne Couturier; David Hoogewijs; Alexandre Buffet; Samantha J L Knight; Sophie Gad; Sophie Couve; Franck Chesnel; Mathilde Pacault; Pierre Lindenbaum; Sylvie Job; Solenne Dumont; Thomas Besnard; Marine Cornec; Helene Dreau; Melissa Pentony; Erika Kvikstad; ...More
PUBLISHED: 2018, SOURCE: BLOOD, VOLUME: 132, ISSUE: 5
INDEXED IN: Scopus WOS