Resultados da busca - Murgia, Alessandra

Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families por Di Giorgio, Elisa, Polli, Roberta, Lunghi, Marco, Murgia, Alessandra

Obter o texto integral Obter o texto integral Obter o texto integral

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family por Gasparini, Alessandra, Tosatto, Silvio C. E., Murgia, Alessandra, Leonardi, Emanuela

Obter o texto integral Obter o texto integral Obter o texto integral

Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait por Sawacha, Zimi, Spolaor, Fabiola, Piątkowska, Weronika Joanna, Cibin, Federica, Ciniglio, Alfredo, Guiotto, Annamaria, Ricca, Marco, Polli, Roberta, Murgia, Alessandra

Obter o texto integral Obter o texto integral Obter o texto integral

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” por Leonardi, Emanuela, Bettella, Elisa, Pelizza, Maria Federica, Aspromonte, Maria Cristina, Polli, Roberta, Boniver, Clementina, Sartori, Stefano, Milani, Donatella, Murgia, Alessandra

Obter o texto integral Obter o texto integral Obter o texto integral

Volumetric image-guided highly conformal radiotherapy of the prostate bed: Toxicity analysis por Ingrosso, Gianluca, Carosi, Alessandra, di Cristino, Daniela, Ponti, Elisabetta, Lancia, Andrea, Murgia, Alessandra, Bruni, Claudia, Morelli, Pasquale, Pietrasanta, Franca, Santoni, Riccardo

Obter o texto integral Obter o texto integral Obter o texto integral

Volumetric image-guided conformal radiotherapy for localized prostate cancer: Analysis of dosimetric and clinical factors affecting acute and late toxicity por Ingrosso, Gianluca, Carosi, Alessandra, Cristino, Daniela di, Ponti, Elisabetta, Lancia, Andrea, Bottero, Marta, Cancelli, Alessandro, Murgia, Alessandra, Turturici, Irene, Santoni, Riccardo

Obter o texto integral Obter o texto integral Obter o texto integral

Vaccination Attitude and Communication in Early Settings: An Exploratory Study por Mereu, Noemi, Mereu, Alessandra, Murgia, Alessandra, Liori, Arianna, Piga, Michela, Argiolas, Federico, Salis, Graziella, Santus, Simonetta, Porcu, Carmela, Contu, Paolo, Sardu, Claudia

Obter o texto integral Obter o texto integral Obter o texto integral

Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents por Hagerman, Randi, Jacquemont, Sebastien, Berry-Kravis, Elizabeth, Des Portes, Vincent, Stanfield, Andrew, Koumaras, Barbara, Rosenkranz, Gerd, Murgia, Alessandra, Wolf, Christian, Apostol, George, von Raison, Florian

Obter o texto integral Obter o texto integral Obter o texto integral

Von Hippel-Lindau disease: an evaluation of natural history and functional disability por Feletti, Alberto, Anglani, Mariagiulia, Scarpa, Bruno, Schiavi, Francesca, Boaretto, Francesca, Zovato, Stefania, Taschin, Elisa, Gardi, Mario, Zanoletti, Elisabetta, Piermarocchi, Stefano, Murgia, Alessandra, Pavesi, Giacomo, Opocher, Giuseppe

Obter o texto integral Obter o texto integral Obter o texto integral

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy por Fehr, Stephanie, Wilson, Meredith, Downs, Jenny, Williams, Simon, Murgia, Alessandra, Sartori, Stefano, Vecchi, Marilena, Ho, Gladys, Polli, Roberta, Psoni, Stavroula, Bao, Xinhua, de Klerk, Nick, Leonard, Helen, Christodoulou, John

Obter o texto integral Obter o texto integral Obter o texto integral

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) por Leonardi, Emanuela, Bellini, Mariagrazia, Aspromonte, Maria C., Polli, Roberta, Mercante, Anna, Ciaccio, Claudia, Granocchio, Elisa, Bettella, Elisa, Donati, Ilaria, Cainelli, Elisa, Boni, Stefania, Sartori, Stefano, Pantaleoni, Chiara, Boniver, Clementina, Murgia, Alessandra

Obter o texto integral Obter o texto integral Obter o texto integral

Standard or hypofractionated radiotherapy in the postoperative treatment of breast cancer: a retrospective analysis of acute skin toxicity and dose inhomogeneities por Tortorelli, Grazia, Di Murro, Luana, Barbarino, Rosaria, Cicchetti, Sara, di Cristino, Daniela, Falco, Maria Daniela, Fedele, Dahlia, Ingrosso, Gianluca, Janniello, Dania, Morelli, Pasquale, Murgia, Alessandra, Ponti, Elisabetta, Terenzi, Sara, Tolu, Barbara, Santoni, Riccardo

Obter o texto integral Obter o texto integral Obter o texto integral

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission por Yrigollen, Carolyn M, Martorell, Loreto, Durbin-Johnson, Blythe, Naudo, Montserrat, Genoves, Jordi, Murgia, Alessandra, Polli, Roberta, Zhou, Lili, Barbouth, Deborah, Rupchock, Abigail, Finucane, Brenda, Latham, Gary J, Hadd, Andrew, Berry-Kravis, Elizabeth, Tassone, Flora

Obter o texto integral Obter o texto integral Obter o texto integral

Distribution of AGG interruption patterns within nine world populations por Yrigollen, Carolyn M., Sweha, Stefan, Durbin-Johnson, Blythe, Zhou, Lili, Berry-Kravis, Elizabeth, Fernandez-Carvajal, Isabel, Faradz, Sultana MH, Amiri, Khaled, Shaheen, Huda, Polli, Roberta, Murillo-Bonilla, Luis, Silva Arevalo, Gabriel de Jesus, Cogram, Patricia, Murgia, Alessandra, Tassone, Flora

Obter o texto integral Obter o texto integral Obter o texto integral

A NOVEL DFNB1 DELETION ALLELE SUPPORTS THE EXISTENCE OF A DISTANT CIS-REGULATORY REGION THAT CONTROLS GJB2 AND GJB6 EXPRESSION por Wilch, Ellen, Azaiez, Hela, Fisher, Rachel A., Elfenbein, Jill, Murgia, Alessandra, Birkenhäger, Ralf, Bolz, Hanno, Costa, Sueli Matilde Silva, del Castillo, Ignacio, Haaf, Thomas, Hoefsloot, Lies, Kremer, Hannie, Kubisch, Christian, Le Marechal, Cedric, Pandya, Arti, Sartorato, Edi Lúcia, Schneider, Eberhard, Van Camp, Guy, Wuyts, Wim, Smith, Richard HJ, Friderici, Karen H.

Obter o texto integral Obter o texto integral Obter o texto integral

Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing por Aspromonte, Maria C., Bellini, Mariagrazia, Gasparini, Alessandra, Carraro, Marco, Bettella, Elisa, Polli, Roberta, Cesca, Federica, Bigoni, Stefania, Boni, Stefania, Carlet, Ombretta, Negrin, Susanna, Mammi, Isabella, Milani, Donatella, Peron, Angela, Sartori, Stefano, Toldo, Irene, Soli, Fiorenza, Turolla, Licia, Stanzial, Franco, Benedicenti, Francesco, Marino-Buslje, Cristina, Tosatto, Silvio C.E., Murgia, Alessandra, Leonardi, Emanuela

Obter o texto integral Obter o texto integral Obter o texto integral

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow por Godler, David E., Ling, Ling, Gamage, Dinusha, Baker, Emma K., Bui, Minh, Field, Michael J., Rogers, Carolyn, Butler, Merlin G., Murgia, Alessandra, Leonardi, Emanuela, Polli, Roberta, Schwartz, Charles E., Skinner, Cindy D., Alliende, Angelica M., Santa Maria, Lorena, Pitt, James, Greaves, Ronda, Francis, David, Oertel, Ralph, Wang, Min, Simons, Cas, Amor, David J.

Obter o texto integral Obter o texto integral Obter o texto integral

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge por Carraro, Marco, Monzon, Alexander Miguel, Chiricosta, Luigi, Reggiani, Francesco, Aspromonte, Maria Cristina, Bellini, Mariagrazia, Pagel, Kymberleigh, Jiang, Yuxiang, Radivojac, Predrag, Kundu, Kunal, Pal, Lipika R., Yin, Yizhou, Limongelli, Ivan, Andreoletti, Gaia, Moult, John, Wilson, Stephen J., Katsonis, Panagiotis, Lichtarge, Olivier, Chen, Jingqi, Wang, Yaqiong, Hu, Zhiqiang, Brenner, Steven E., Ferrari, Carlo, Murgia, Alessandra, Tosatto, Silvio C.E., Leonardi, Emanuela

Obter o texto integral Obter o texto integral Obter o texto integral

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene por Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy

Obter o texto integral Obter o texto integral Obter o texto integral

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study por Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy

Obter o texto integral Obter o texto integral