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8 results for Petrilli,+Giulia

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ArticlesPeer ReviewedFull Text
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Author / Creator:Zanoni, Paolo ; Steindl, Katharina ; Sengupta, Deepanwita ; Joset, Pascal ; Bahr, Angela ; Sticht, Heinrich ; Lang-Muritano, Mariarosaria ; van Ravenswaaij-Arts, Conny M.A. ; Shinawi, Marwan ; Andrews, Marisa ; Attie-Bitach, Tania ; Maystadt, Isabelle ; Belnap, Newell ; Benoit, Valerie ; Delplancq, Geoffroy ; de Vries, Bert B.A. ; Grotto, Sarah ; Lacombe, Didier ; Larson, Austin ; Mourmans, Jeroen ; Õunap, Katrin ; Petrilli, Giulia ; Pfundt, Rolph ; Ramsey, Keri ; Blok, Lot Snijders ; Tsatsaris, Vassilis ; Vitobello, Antonio ; Faivre, Laurence ; Wheeler, Patricia G. ; Wevers, Marijke R. ; Wojcik, Monica ; Zweier, Markus ; Gozani, Or ; Rauch, Anita
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-08, Vol.23 (8), p.1474-1483
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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation
Author / Creator:Haldipur, Parthiv ; Bernardo, Silvia ; Aldinger, Kimberly A. ; Sivakumar, Tarika ; Millman, Jake ; Sjoboen, Alexandria H. ; Dang, Derek ; Dubocanin, Danilo ; Deng, Mei ; Timms, Andrew E. ; Davis, Brian D. ; Plummer, Jasmine T. ; Mankad, Kshitij ; Oztekin, Ozgur ; Manganaro, Lucia ; Guimiot, Fabien ; Adle-Biassette, Homa ; Russo, Rosa ; Siebert, Joseph R. ; Kidron, Debora ; Petrilli, Giulia ; Roux, Nathalie ; Razavi, Ferechte ; Glass, Ian A. ; Di Gioia, Cira ; Silvestri, Evelina ; Millen, Kathleen J.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2021-10, Vol.142 (4), p.761-776
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Author / Creator:Van Haute, Lindsey ; Páleníková, Petra ; Tang, Jia Xin ; Nash, Pavel A ; Simon, Mariella T ; Pyle, Angela ; Oláhová, Monika ; Powell, Christopher A ; Rebelo-Guiomar, Pedro ; Stover, Alexander ; Champion, Michael ; Deshpande, Charulata ; Baple, Emma L ; Stals, Karen L ; Ellard, Sian ; Anselem, Olivia ; Molac, Clémence ; Petrilli, Giulia ; Loeuillet, Laurence ; Grotto, Sarah ; Attie-Bitach, Tania ; Abdenur, Jose E ; Taylor, Robert W ; Minczuk, Michal
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2025-01, Vol.17 (1), p.193-210
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Hepatosplenic Candidiasis Detected by 18F-FDG-PET/CT
Author / Creator:Albano Domenico ; Bosio Giovanni ; Bertoli Mattia ; Petrilli Giulia ; Bertagna, Francesco
Publisher:Mashhad: Asia Oceania Journal of Nuclear Medicine & Biology
Journal title:Asia oceania journal of nuclear medicine and biology, 2016-01, Vol.4 (2), p.106-108
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Exploring the Link Between Sensory Processing and Psychopathology in a Community Sample of Young Adults: Bayesian Network Analyses
Author / Creator:Escelsior, Andrea ; Murri, Martino Belvederi ; Polena, Luis ; Petrilli, Giulia ; Zizzi, Alessio ; Inuggi, Alberto ; Bode, Juxhin ; Engel-Yeger, Batya ; da Silva, Beatriz Pereira ; Gori, Monica ; Amore, Mario ; Serafini, Gianluca
Journal title:International journal of mental health and addiction, 2024-05
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Carcinoma Cuniculatum of the Foot Invading the Bone Mimicking a Pseudo-Epitheliomatous Reaction to an Acute Osteomyelitis
Author / Creator:Arisi, Mariachiara ; Zane, Cristina ; Edu, Irina ; Battocchio, Simonetta ; Petrilli, Giulia ; Calzavara-Pinton, Pier Giacomo
Publisher:Cheshire: Springer Healthcare
Journal title:Dermatology and therapy, 2016-03, Vol.6 (1), p.95-99
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A Case of Acrodermatitis Continua of Hallopeau Following Chronic Pustular Cheilitis
Author / Creator:Arisi, Mariachiara ; Rossi, Maria Teresa ; Sala, Raffaella ; Petrilli, Giulia ; Marocolo, Daniela ; Ungari, Marco ; Facchetti, Fabio ; Calzavara-Pinton, Pier Giacomo
Publisher:Cheshire: Springer Healthcare
Journal title:Dermatology and therapy, 2016-03, Vol.6 (1), p.89-94
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The association between insight and depressive symptoms in schizophrenia: Undirected and Bayesian network analyses
Author / Creator:Amore, Mario ; Murri, Martino Belvederi ; Calcagno, Pietro ; Rocca, Paola ; Rossi, Alessandro ; Aguglia, Eugenio ; Bellomo, Antonello ; Blasi, Giuseppe ; Carpiniello, Bernardo ; Cuomo, Alessandro ; dell’Osso, Liliana ; di Giannantonio, Massimo ; Giordano, Giulia Maria ; Marchesi, Carlo ; Monteleone, Palmiero ; Montemagni, Cristiana ; Oldani, Lucio ; Pompili, Maurizio ; Roncone, Rita ; Rossi, Rodolfo ; Siracusano, Alberto ; Vita, Antonio ; Zeppegno, Patrizia ; Corso, Alessandro ; Arzani, Costanza ; Galderisi, Silvana ; Maj, Mario
Publisher:England: Cambridge University Press
Journal title:European psychiatry, 2020-01, Vol.63 (1), p.1, Article e46
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

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Evidence of disrupted rhombic lip development in the pathogenesis of Dandy–Walker malformation

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

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Hepatosplenic Candidiasis Detected by 18F-FDG-PET/CT

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Exploring the Link Between Sensory Processing and Psychopathology in a Community Sample of Young Adults: Bayesian Network Analyses

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Carcinoma Cuniculatum of the Foot Invading the Bone Mimicking a Pseudo-Epitheliomatous Reaction to an Acute Osteomyelitis

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A Case of Acrodermatitis Continua of Hallopeau Following Chronic Pustular Cheilitis

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The association between insight and depressive symptoms in schizophrenia: Undirected and Bayesian network analyses

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