Maria Lisa Dentici
AuthID: R-00F-HXV
1
TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; ...More
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: Scopus WOS
2
TITLE: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
AUTHORS: Guntram Borck; Friederike Hog; Maria Lisa Dentici; Perciliz L Tan; Nadine Sowada; Ana Medeira; Lucie Gueneau; Holger Thiele; Maria Kousi; Francesca Lepri; Larissa Wenzeck; Ian Blumenthal; Antonio Radicioni; Tito Livio Schwarzenberg; Barbara Mandriani; Rita Fischetto; Deborah J Morris Rosendahl; Janine Altmuller; Alexandre Reymond; Peter Nurnberg; ...More
PUBLISHED: 2015, SOURCE: GENOME RESEARCH, VOLUME: 25, ISSUE: 2
AUTHORS: Guntram Borck; Friederike Hog; Maria Lisa Dentici; Perciliz L Tan; Nadine Sowada; Ana Medeira; Lucie Gueneau; Holger Thiele; Maria Kousi; Francesca Lepri; Larissa Wenzeck; Ian Blumenthal; Antonio Radicioni; Tito Livio Schwarzenberg; Barbara Mandriani; Rita Fischetto; Deborah J Morris Rosendahl; Janine Altmuller; Alexandre Reymond; Peter Nurnberg; ...More
PUBLISHED: 2015, SOURCE: GENOME RESEARCH, VOLUME: 25, ISSUE: 2