An energy budget for the subtidal bivalve Modiolus barbatus (Mollusca) at different temperatures by Ezgeta-Balić, D., Rinaldi, A., Peharda, M., Prusina, I., Montalto, V., Niceta, N., Sarà, G.

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Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome by Niceta, M., Margiotti, K., Digilio, M.C., Guida, V., Bruselles, A., Pizzi, S., Ferraris, A., Memo, L., Laforgia, N., Dentici, M.L., Consoli, F., Torrente, I., Ruiz‐Perez, V.L., Dallapiccola, B., Marino, B., De Luca, A., Tartaglia, M.

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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function by Lam, M, Coppola, S, Krumbach, Oliver H.F, Prencipe, Giuseppe, Insalaco, Antonella, Cifaldi, C, Brigida, I, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre, Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Mortera, Stefano Levi, Camerini, Serena, Farina, L, Buchholzer, Marcel, Pannone, L, Cao, T, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Basso-Ricci, L, Chiriaco, M, Dvorsky, Radovan, Putignani, L, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjørg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan, Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Lupski, James R

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome by Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs

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Rare and de novo coding variants in chromodomain genes in Chiari I malformation by Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

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De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder by Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.

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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy by Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.

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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy by Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

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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.

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Rare and de novo coding variants in chromodomain genes in Chiari I malformation by Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome by Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

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Rare and de novo coding variants in chromodomain genes in Chiari I malformation by Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

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Development of S/MAR minicircles for enhanced and persistent transgene expression in the mouse liver by Argyros, Orestis, Wong, Suet Ping, Fedonidis, Constantinos, Tolmachov, Oleg, Waddington, Simon N., Howe, Steven J., Niceta, Marcello, Coutelle, Charles, Harbottle, Richard P.

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A rare case of leiomyosarcoma of the penis with a reappraisal of the literature by DOMINICI, ALBERTO, ROSE, AUGUSTO DELLE, STOMACI, NICETA, PUGLIESE, LAVINIA, POSTI, ALESSANDRO, NESI, GABRIELLA

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Le Mercure de Gaillon / avec introduction par Nicétas Périaux

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A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function by Lam, M, Coppola, S, Krumbach, Oliver H.F, Prencipe, Giuseppe, Insalaco, Antonella, Cifaldi, C, Brigida, I, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre, Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Mortera, Stefano Levi, Camerini, Serena, Farina, L, Buchholzer, Marcel, Pannone, L, Cao, T, Coban-Akdemir, Zeynep H, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Basso-Ricci, L, Chiriaco, M, Dvorsky, Radovan, Putignani, L, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjørg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan, Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Lupski, James R

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