Որոնման արդյունքները - Pizzi, Simone

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants ‌ Priolo, Manuela, Mancini, Cecilia, Pizzi, Simone, Chiriatti, Luigi, Radio, Francesca Clementina, Cordeddu, Viviana, Pintomalli, Letizia, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype ‌ Priolo, Manuela, Radio, Francesca Clementina, Pizzi, Simone, Pintomalli, Letizia, Pantaleoni, Francesca, Mancini, Cecilia, Cordeddu, Viviana, Africa, Emilio, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops ‌ Castiglia, Daniele, Fortugno, Paola, Condorelli, Angelo Giuseppe, Barresi, Sabina, De Luca, Naomi, Pizzi, Simone, Neri, Iria, Graziano, Claudio, Trojan, Diletta, Ponzin, Diego, Rossi, Sabrina, Zambruno, Giovanna, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So... ‌ D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

A shared protocol for porcine surfactant use in pediatric acute respiratory distress syndrome: a feasibility study ‌ Wolfler, Andrea, Piastra, Marco, Amigoni, Angela, Santuz, Pierantonio, Gitto, Eloisa, Rossetti, Emanuele, Tinelli, Carmine, Montani, Cinzia, Savron, Fabio, Pizzi, Simone, D’amato, Luigia, Mondardini, Maria Cristina, Conti, Giorgio, De Silvestri, Annalisa

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3 ‌ Flex, Elisabetta, Imperatore, Valentina, Carpentieri, Giovanna, Bruselles, Alessandro, Ciolfi, Andrea, Pizzi, Simone, Tedesco, Maria Giovanna, Rogaia, Daniela, Mencarelli, Amedea, Di Cara, Giuseppe, Verrotti, Alberto, Troiani, Stefania, Merla, Giuseppe, Tartaglia, Marco, Prontera, Paolo

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

MODL-23. DNA METHYLATION AND COPY NUMBER VARIATION PROFILE FOR CHARACTERIZATION OF PEDIATRIC BRAIN TUMOR PRIMARY CELL LINES ‌ Pedace, Lucia, Vinci, Maria, Pizzi, Simone, Pericoli, Giulia, Catanzaro, Giuseppina, Abballe, Luana, Del Bufalo, Francesca, Caruana, Ignazio, Camassei, Francesca Diomedi, Rossi, Sabrina, Giangaspero, Felice, Ferretti, Elisabetta, Ciolfi, Andrea, Tartaglia, Marco, Locatelli, Franco, Mastronuzzi, Angela, Miele, Evelina

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature ‌ Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant ‌ Nicita, Francesco, Stregapede, Fabrizia, Deodato, Federica, Pizzi, Simone, Martinelli, Simone, Pagliara, Daria, Aiello, Chiara, Cumbo, Francesca, Piemonte, Fiorella, D’Amico, Jessica, Pro, Stefano, Longo, Daniela, Genovese, Silvia, Tartaglia, Marco, Escolar, Maria L., Bertini, Enrico, Travaglini, Lorena

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

TMOD-05. GENOME-WIDE DNA METHYLATION PROFILE: A POWERFUL STRATEGY TO RECAPITULATE HETEROGENEITY OF PEDIATRIC BRAIN TUMORS IN PRIMARY CELL LINES ‌ Pedace, Lucia, Pizzi, Simone, Vinci, Maria, Pericoli, Giulia, Catanzaro, Giuseppina, Abballe, Luana, Po, Agnese, Del Bufalo, Francesca, Rossi, Sabrina, Camassei, Francesca Diomedi, Giangaspero, Felice, Tiberi, Luca, Mastronuzzi, Angela, Ferretti, Elisabetta, Tartaglia, Marco, Locatelli, Franco, Ciolfi, Andrea, Miele, Evelina

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature ‌ Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Surgical Antimicrobial Prophylaxis in Patients of Neonatal and Pediatric Age Undergoing Orthopedic and Hand Surgery: A RAND/UCLA Appropriateness Method Consensus Study ‌ Opri, Francesca, Bianchini, Sonia, Nicoletti, Laura, Monaco, Sara, Opri, Roberta, Di Pietro, Marilia, Carrara, Elena, Rigotti, Erika, Auriti, Cinzia, Caminiti, Caterina, Donà, Daniele, Lancella, Laura, Lo Vecchio, Andrea, Pizzi, Simone, Principi, Nicola, Simonini, Alessandro, Tesoro, Simonetta, Venturini, Eisabetta, Villani, Alberto, Staiano, Annamaria, Marchesini Reggiani, Leonardo, Esposito, Susanna

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases ‌ Grassi, Ludovica, Alfonsi, Romina, Francescangeli, Federica, Signore, Michele, De Angelis, Maria Laura, Addario, Antonio, Costantini, Manuela, Flex, Elisabetta, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Pallocca, Matteo, Simone, Giuseppe, Haoui, Mustapha, Falchi, Mario, Milella, Michele, Sentinelli, Steno, Di Matteo, Paola, Stellacci, Emilia, Gallucci, Michele, Muto, Giovanni, Tartaglia, Marco, De Maria, Ruggero, Bonci, Désirée

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome ‌ Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile ‌ Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, Sadikovic, Bekim

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Surgical Antimicrobial Prophylaxis in Neonates and Children Undergoing Neurosurgery: A RAND/UCLA Appropriateness Method Consensus Study ‌ Esposito, Susanna, Zucchelli, Mino, Bianchini, Sonia, Nicoletti, Laura, Monaco, Sara, Rigotti, Erika, Venditto, Laura, Auriti, Cinzia, Caminiti, Caterina, Castagnola, Elio, Conti, Giorgio, De Luca, Maia, Donà, Daniele, Galli, Luisa, Garazzino, Silvia, La Grutta, Stefania, Lancella, Laura, Lima, Mario, Maglietta, Giuseppe, Pelizzo, Gloria, Petrosillo, Nicola, Piacentini, Giorgio, Pizzi, Simone, Simonini, Alessandro, Tesoro, Simonetta, Venturini, Elisabetta, Mosca, Fabio, Staiano, Annamaria, Principi, Nicola

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy ‌ Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ‌ Motta, Marialetizia, Pannone, Luca, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Cecchetti, Serena, Ciolfi, Andrea, Di Rocco, Martina, Elting, Mariet W., Brilstra, Eva H., Boni, Stefania, Mazzanti, Laura, Tamburrino, Federica, Walsh, Larry, Payne, Katelyn, Fernández-Jaén, Alberto, Ganapathi, Mythily, Chung, Wendy K., Grange, Dorothy K., Dave-Wala, Ashita, Reshmi, Shalini C., Bartholomew, Dennis W., Mouhlas, Danielle, Carpentieri, Giovanna, Bruselles, Alessandro, Pizzi, Simone, Bellacchio, Emanuele, Piceci-Sparascio, Francesca, Lißewski, Christina, Brinkmann, Julia, Waclaw, Ronald R., Waisfisz, Quinten, van Gassen, Koen, Wentzensen, Ingrid M., Morrow, Michelle M., Álvarez, Sara, Martínez-García, Mónica, De Luca, Alessandro, Memo, Luigi, Zampino, Giuseppe, Rossi, Cesare, Seri, Marco, Gelb, Bruce D., Zenker, Martin, Dallapiccola, Bruno, Stella, Lorenzo, Prada, Carlos E., Martinelli, Simone, Flex, Elisabetta, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling ‌ Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus ‌ Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo

Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը