Gaetan Lesca
AuthID: R-00J-F4X
1
TÃTULO: Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals Full Text
AUTORES: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...Mais
PUBLICAÇÃO: 2023, FONTE: HUMAN GENETICS
AUTORES: Schmetz, Ariane; Luedecke, Hermann Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme Pichon, Anne Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung Chien; Hustinx, Alexander; Kleinendorst, Lotte; ...Mais
PUBLICAÇÃO: 2023, FONTE: HUMAN GENETICS
INDEXADO EM: 
Scopus 
WOS
Scopus WOS2
TÃTULO: CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
AUTORES: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; ...Mais
PUBLICAÇÃO: 2022, FONTE: GENETICS IN MEDICINE, VOLUME: 24, NÚMERO: 5
AUTORES: Rouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye Duriez, Andree; Doco Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; ...Mais
PUBLICAÇÃO: 2022, FONTE: GENETICS IN MEDICINE, VOLUME: 24, NÚMERO: 5
INDEXADO EM: Scopus WOS
Scopus WOS3
TÃTULO: Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy Full Text
AUTORES: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; ...Mais
PUBLICAÇÃO: 2020, FONTE: HUMAN MUTATION, VOLUME: 41, NÚMERO: 7
AUTORES: Gemma L Carvill; Katherine L Helbig; Candace T Myers; Marcello Scala; Robert Huether; Sara Lewis; Tyler N Kruer; Brandon S Guida; Somayeh Bakhtiari; Joy Sebe; Sha Tang; Heather Stickney; Sehribani Ulusoy Oktay; Ashwin A Bhandiwad; Keri Ramsey; Vinodh Narayanan; Timothy Feyma; Luis O Rohena; Andrea Accogli; Mariasavina Severino; ...Mais
PUBLICAÇÃO: 2020, FONTE: HUMAN MUTATION, VOLUME: 41, NÚMERO: 7
INDEXADO EM: Scopus WOS
Scopus WOS