Elisa Leao-Teles


AuthID: R-00G-JKC

Publications Requiring Validation

1
TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian She; Weghuber, Daniel; Wortmann, Saskia; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: Scopus WOS
2
TITLE: Novel MTO1 mutations associated with an intrafamilial phenotypic variability  Full Text
AUTHORS: Almeida, Catarina Maria; Rodrigues, Esmeralda; Campos, Teresa Almeida; Vilarinho, Laura; Teles, Elisa Leao;
PUBLISHED: 2023, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS
3
TITLE: De Barsy syndrome and ATP6V0A2-CDG  Full Text
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
INDEXED IN: CrossRef

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