Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment by COCHAT, Pierre, HULTON, Sally-Anne, JAMIESON, Neville V, KEMPER, Markus J, MANDRILE, Giorgia, MARANGELLA, Martino, PICCA, Stefano, RUMSBY, Gill, SALIDO, Eduardo, STRAUB, Michael, WOERDEN, Christiaan S. Van, ACQUAVIVA, Cecile, DANPURE, Christopher J, DAUDON, Michel, DE MARCHI, Mario, FARGUE, Sonia, GROOTHOFF, Jaap, HARAMBAT, Jerome, HOPPE, Bernd

Get full text

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases by Fallerini, C., Dosa, L., Tita, R., Del Prete, D., Feriozzi, S., Gai, G., Clementi, M., La Manna, A., Miglietti, N., Mancini, R., Mandrile, G., Ghiggeri, G.M., Piaggio, G., Brancati, F., Diano, L., Frate, E., Pinciaroli, A.R., Giani, M., Castorina, P., Bresin, E., Giachino, D., De Marchi, M., Mari, F., Bruttini, M., Renieri, A., Ariani, F.

Get full text

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate dise... by Di Gregorio, E., Riberi, E., Belligni, E.F., Biamino, E., Spielmann, M., Ala, U., Calcia, A., Bagnasco, I., Carli, D., Gai, G., Giordano, M., Guala, A., Keller, R., Mandrile, G., Arduino, C., Maffè, A., Naretto, V.G., Sirchia, F., Sorasio, L., Ungari, S., Zonta, A., Zacchetti, G., Talarico, F., Pappi, P., Cavalieri, S., Giorgio, E., Mancini, C., Ferrero, M., Brussino, A., Savin, E., Gandione, M., Pelle, A., Giachino, D.F., De Marchi, M., Restagno, G., Provero, P., Cirillo Silengo, M., Grosso, E., Buxbaum, J.D., Pasini, B., De Rubeis, S., Brusco, A., Ferrero, G.B.

Get full text

P5028Shanghai score system into practice by Carvalho, P, Gravinese, C, Varalda, G P, Previti, A, Mandrile, G, Giachino, D F, Pozzi, R

Get full text

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus by Sy, Mary R., Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo‐Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti‐Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille M., Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni Battista, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos A., Kuwahara, Akela, Bush, Jeffrey O., Zhao, Xiaonan, Luna, Pamela N., Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.

Get full text

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance by Mandrile, G., Robbiano, A., Giachino, D. F., Sebastiano, R., Dondi, E., Fenoglio, R., Stratta, P., Caruso, M. R., Petrarulo, M., Marangella, M., De Marchi, M.

Get full text

Phenotypic and genotypic description of 44 patients with variants in DLG4 encoding the post-synaptic density protein PSD-95 by Seuma, ARP, Boerrigter, M, Mandrile, G, Pelle, A, Giorgio, E, Lindstrand, A, Johansson, M, Kvarnung, M, Everman, D, Bahrambeigi, V, MacKenzie, A, Morton, J, Ruivenkamp, C, Challman, T, Hurst, A, Hoyer, J, Elmslie, F, Dye, T, Isidor, B, Haldeman-Englert, C, Gomez-Andres, D, Schluter, A, de Man, S, Shieh, J, Prada, C, Moutton, S, Denomme-Pichon, A, Motti, S, Bruel, A, Mau-Them, FT, Reiter, S, van Ravenswaaij-Arts, C, Shaw-Smith, C, Parikh, S, Aldinger, K, Lovgren, A, Rauch, A, Ross, M, Gomez-Puertas, P, de Vries, B, Pujol, A, Tumer, Z

Get full text

PD-010 Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and... by Giachino, D., Ghio, P., Regazzoni, S., Mandrile, G., Novello, S., Selvaggi, G., De Marchi, M., Scagliotti, G.

Get full text

Rapid and sensitive detection of pyrimethanil residues on pome fruits by Surface Enhanced Raman Scattering by Mandrile, L., Giovannozzi, A.M., Durbiano, F., Martra, G., Rossi, A.M.

Get full text

Efficacy, biocompatibility and degradability of carbon nanoparticles for photothermal therapy of lung cancer by Kokalari, Ida, Keshavan, Sandeep, Rahman, Mizanur, Gazzano, Elena, Barzan, Giulia, Mandrile, Luisa, Giovannozzi, Andrea, Ponti, Jessica, Antonello, Giulia, Monopoli, Marco, Perrone, Guido, Bergamaschi, Enrico, Riganti, Chiara, Fadeel, Bengt, Fenoglio, Ivana

Get full text

Preparation and biodegradation of clay composites of PLA by Nieddu, Erika, Mazzucco, L., Gentile, P., Benko, T., Balbo, V., Mandrile, R., Ciardelli, G.

Get full text

Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia by Saettini, Francesco, Guerra, Fabiola, Mauri, Mario, Fazio, Grazia, Bugarin, Cristina, Quadri, Manuel, Rebellato, Stefano, Chinello, Clizia, Pagani, Lisa, Malighetti, Federica, González Gutiérrez-Solana, Luis, Denti, Vanna, Emam Mousavi, Fatemeh, Raspall-Chaure, Miquell, Andrea, Martin-Nalda, Barredo, Estibaliz, Adams, David, Melanie, O'Leary, D'Souza, Precilla, Macnamara, Ellen, Rosenzweig, Sergio, Kuehn, Hye Sun, Stoddard, Jennifer, Mefford, Heather C, Mandrile, Giorgia, Pavinato, Lisa, Brusco, Alfredo, Velez Santamaria, Patricia Valentina, Pujol, Aurora, Michaud, Vincent, Roubertie, Agathe, Nelson, Zoe, Adam, Margaret P, Lo, Bernice, Uhlig, Holm, Salter, Claire G, Baple, Emma, Crosby, Andrew H, Bhatia, Sanil, Magni, Fulvio, Paglia, Giuseppe, Cazzaniga, Giovanni, Piazza, Rocco, Biondi, Andrea, Barberis, Matteo

Get full text

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype by Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

Get full text

Effects of Cutting Parameters over Turning of UDIMET® 720 Superalloy in a Broaching Process Simulation by Bonnardel, Quentin, Wagner, Vincent, Dessein, Gilles, Dutilh, Vincent, Mandrile, Sebastien

Get full text

Plasma visfatin concentrations after a lifestyle intervention were directly associated with inflammatory markers by Bo, S, Ciccone, G, Baldi, I, Gambino, R, Mandrile, C, Durazzo, M, Gentile, L, Cassader, M, Cavallo-Perin, P, Pagano, G

Get full text

Externally triggered polymeric microcapsules for controlled drug delivery by Bruno, D., Ciardelli, G., Civera, P., Gamba, L., Mandrile, R., Montevecchi, M.

Get full text