Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the Prophet of Pit-1 gene by PERNASETTI, F, TOLEDO, S. P. A, VASILYEV, V. V, HAYASHIDA, C. Y, COGAN, J. D, FERRARI, C, LOURENCO, D. M, MELLON, P. L

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Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene 1 by Pernasetti, Flavia, Toledo, Sergio P. A., Vasilyev, Vyacheslav V., Hayashida, Cesar Y., Cogan, Joy D., Ferrari, Carmela, Lourenço, Delmar M., Mellon, Pamela L.

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Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene1 by Pernasetti, Flavia, Toledo, Sergio P. A., Vasilyev, Vyacheslav V., Hayashida, Cesar Y., Cogan, Joy D., Ferrari, Carmela, Lourenço, Delmar M., Mellon, Pamela L.

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Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis by Rumi, Elisa, Pietra, Daniela, Pascutto, Cristiana, Guglielmelli, Paola, Martínez-Trillos, Alejandra, Casetti, Ilaria, Colomer, Dolors, Pieri, Lisa, Pratcorona, Marta, Rotunno, Giada, Sant'Antonio, Emanuela, Bellini, Marta, Cavalloni, Chiara, Mannarelli, Carmela, Milanesi, Chiara, Boveri, Emanuela, Ferretti, Virginia, Astori, Cesare, Rosti, Vittorio, Cervantes, Francisco, Barosi, Giovanni, Vannucchi, Alessandro M., Cazzola, Mario

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Benzo[a]pyrene disrupts LH/hCG-dependent mouse Leydig cell steroidogenesis through receptor/Gαs protein targeting by Lazzaretti, Clara, Roy, Neena, Paradiso, Elia, Capponi, Chiara, Ferrari, Tommaso, Reggianini, Francesca, Sperduti, Samantha, Perri, Carmela, Baschieri, Lara, Mascolo, Elisa, Varani, Manuela, Canu, Giulia, Trenti, Tommaso, Nicoli, Alessia, Morini, Daria, Iannotti, Francesca, Villani, Maria Teresa, Vicini, Elena, Simoni, Manuela, Casarini, Livio

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miRNA-mRNA integrative analysis in primary myelofibrosis CD34+ cells: role of miR-155/JARID2 axis in abnormal megakaryopoiesis by Norfo, Ruggiero, Zini, Roberta, Pennucci, Valentina, Bianchi, Elisa, Salati, Simona, Guglielmelli, Paola, Bogani, Costanza, Fanelli, Tiziana, Mannarelli, Carmela, Rosti, Vittorio, Pietra, Daniela, Salmoiraghi, Silvia, Bisognin, Andrea, Ruberti, Samantha, Rontauroli, Sebastiano, Sacchi, Giorgia, Prudente, Zelia, Barosi, Giovanni, Cazzola, Mario, Rambaldi, Alessandro, Bortoluzzi, Stefania, Ferrari, Sergio, Tagliafico, Enrico, Vannucchi, Alessandro M., Manfredini, Rossella

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Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study by Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Rademakers, Rosa, van Swieten, John C, Meeter, Lieke H, Dopper, Elise GP, Snowden, Julie S, Saxon, Jennifer, Pickering-Brown, Stuart, Le Ber, Isabelle, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Graff, Caroline, Ghoshal, Nupur, Galimberti, Daniela, Scarpini, Elio, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Kwok, John, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Anderl-Straub, Sarah, Masellis, Mario, Black, Sandra E, Lautrette, Geraldine, Vandenberghe, Rik, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Papageorgiou, Sokratis G, Bras, Jose, Rohrer, Jonathan D, Heller, Carolin, Convery, Rhian S, Shafei, Rachelle M, Jones, David T, Baker, Matt, Gavrilova, Ralitza, Domoto-Reilly, Kimiko, Poos, Jackie M, Van der Ende, Emma L, Panman, Jessica L, Seelaar, Harro, Fostinelli, Silvia, Chiang, Huei-Hsin, Arighi, Andrea, Fenoglio, Chiara, Heuer, Hilary, Miller, Bruce, Karydas, Anna, Fong, Jamie, João Leitão, Maria, Santiago, Beatriz, Ferreira, Carlos, De Arriba, Maria, Tainta, Mikel, Zulaica, Miren, Ferreira, Catarina, Semler, Elisa, Ludolph, Albert, Miltenberger, Gabriel, Rogaeva, Ekaterina, Bruffaerts, Rose, Vandenbulcke, Mathieu, Mesulam, M Marsel, Bigio, Eileen, Kroupis, Christos, Stefanis, Leonidas, Shoesmith, Christien, Robertson, Erik, Geschwind, Daniel

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Diabetes and diabetic retinopathy in patients undergoing cataract surgery: a prevalence study—DiCat study report #2 by Rossi, Tommaso, Panozzo, Giacomo, Della Mura, Giulia, Giannarelli, Diana, Ferrari, Daniele, Alessio, Giovanni, Palmisano, Carmela, Telani, Serena, Ripandelli, Guido

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

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An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs by Gervais, Olivier, Kawai, Yosuke, Tang, Ruqi, Atkinson, Elizabeth J., Carbone, Marco, de Andrade, Mariza, Byan, Jinyoung, Lazaridis, Konstantinos N., Siminovitch, Katherine A., Ma, Xiong, Affronti, Andrea, Almasio, Piero L., Benedetti, Antonio, Crocè, Lory Saveria, Donato, Francesca, Fabris, Luca, Lampertico, Pietro, Marzioni, Marco, Nagaoka, Shinya, Ohira, Hiromasa, Matsushita, Kouki, Kouno, Hirotaka, Ota, Hajime, Shimada, Masaaki, Komeda, Toshiki, Yamashita, Tsutomu, Takahashi, Hironao, Yamauchi, Kazuhiko, Hayashi, Shigeki, Watanabe, Yukio, Hirata, Keisuke, Kaneko, Shuichi, Arai, Kuniaki, Hashimoto, Etsuko, Umemura, Takeji, Seike, Masataka, Kanda, Tatsuo, Himoto, Takashi, Yasunami, Michio, Mizokami, Masashi, Yamamoto, Kazuhide, Ido, Akio, Harada, Kenichi, Nakanuma, Yasuni, Soejima, Yuji, Yagi, Shintaro, Tanaka, Tomohiro, Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Lattari, Michael, Lopez, Alexander, Wolf, Sarah E., Balasubramanian, Suganthi, Khalid, Shareef, Maxwell, Evan K., Sturgess, Richard, Healey, Christopher, Kooner, Paul, Evans, Richard, Tibble, Jeremy A., Gorard, David A., Jones, Susan, Srivastava, Brijesh, Elphick, David, Sayer, Joanne, Carter, Martyn J., Koss, Konrad, Shah, Jayshri, Grimley, Charles, Gooding, Ian R., Williams, Simon, Cheent, Kuldeep, Marley, Richard, Ramage, John, Gordon, Harriet M., Ridpath, Jo, Abouda, George, Narain, Mark, Taylor-Robinson, Simon, Matthews, Helen C., Prince, Martin I., Bathgate, Andrew J., Dillon, John F., Collier, Jane, Aspinall, Richard, Douds, Andrew C., Booth, Jonathan, Hussaini, Hyder, Christie, John, Patanwala, Imran, Maltby, Julia, Singhal, Saket, Mitchison, Harriet, Jain, Sanjiv, Wright, Mark, Unitt, Esther, Grant, Allister, Mathew, Ray, Ramakrishnan, Subramaniam

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination by Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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Four pathogenic variants co-occurring in a MINAS early-onset breast cancer by Bondavalli, Davide, Urtis, Mario, Grasso, Maurizia, Giorgianni, Carmela, Cassani, Chiara, Sgarella, Adele, Ferrari, Alberta, Rizzo, Gianpiero, Arbustini, Eloisa

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Managing the ocular surface after glaucoma filtration surgery: an orphan topic by Agnifili, Luca, Figus, Michele, Sacchi, Matteo, Oddone, Francesco, Villani, Edoardo, Ferrari, Giulio, Posarelli, Chiara, Carnevale, Carmela, Nucci, Paolo, Nubile, Mario, Mastropasqua, Leonardo

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Early Identification of Functional High Risk Multiple Myeloma Patients after Transplant with Diffusion-Weighted Whole-Body MRI: Predictive Role of Fat Fraction in Addition to RAC S... by Belotti, Angelo, Frittoli, Barbara, Terlizzi, Sofia, Ribolla, Rossella, Crippa, Claudia, Saeli, Chiara, Ferrari, Samantha, Peli, Annalisa, Bianchetti, Nicola, Bottelli, Chiara, Cattaneo, Chiara, Carbone, Carmela, Gullino, Alessandro, Chiarini, Marco, Giustini, Viviana, Roccaro, Aldo, Grazioli, Luigi, Tucci, Alessandra

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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants by Neuray, Caroline, Maroofian, Reza, Scala, Marcello, Sultan, Tipu, Pai, Gurpur S, Mojarrad, Majid, Khashab, Heba El, deHoll, Leigh, Yue, Wyatt, Alsaif, Hessa S, Zanetti, Maria N, Bello, Oscar, Person, Richard, Eslahi, Atieh, Khazaei, Zaynab, Feizabadi, Masoumeh H, Efthymiou, Stephanie, El-Bassyouni, Hala T, Soliman, Doaa R, Tekes, Selahattin, Ozer, Leyla, Baltaci, Volkan, Khan, Suliman, Beetz, Christian, Amr, Khalda S, Salpietro, Vincenzo, Jamshidi, Yalda, Alkuraya, Fowzan S, Houlden, Henry

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Oncological outcomes of patients not undergoing Total Mesorectal Excision after local excision: rethinking surgical indications by Bao, Quoc Riccardo, Ferrari, Stefania, Capelli, Giulia, Chiloiro, Giuditta, Rega, Daniela, Pucciarelli, Salvatore, Spolverato, Gaya

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry

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Correction: Managing the ocular surface after glaucoma filtration surgery: an orphan topic by Agnifili, Luca, Figus, Michele, Sacchi, Matteo, Oddone, Francesco, Villani, Edoardo, Ferrari, Giulio, Posarelli, Chiara, Carnevale, Carmela, Nucci, Paolo, Nubile, Mario, Mastropasqua, Leonardo

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International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways by Cordell, Heather J., Han, Younghun, Mells, George F., Li, Yafang, Hirschfield, Gideon M., Greene, Casey S., Xie, Gang, Juran, Brian D., Zhu, Dakai, Qian, David C., Floyd, James A. B., Morley, Katherine I., Prati, Daniele, Lleo, Ana, Cusi, Daniele, Gershwin, M. Eric, Anderson, Carl A., Lazaridis, Konstantinos N., Invernizzi, Pietro, Seldin, Michael F., Sandford, Richard N., Amos, Christopher I., Siminovitch, Katherine A.

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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification by Schottlaender, Lucia V., Abeti, Rosella, Jaunmuktane, Zane, Macmillan, Carol, Chelban, Viorica, O’Callaghan, Benjamin, McKinley, John, Maroofian, Reza, Efthymiou, Stephanie, Athanasiou-Fragkouli, Alkyoni, Forbes, Raeburn, Soutar, Marc P.M., Livingston, John H., Kalmar, Bernardett, Swayne, Orlando, Hotton, Gary, Groppa, Stanislav, Karashova, Blagovesta Marinova, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercedes, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Sanchez, Benigno Monteagudo, Boles, Richard, Papacostas, Savvas, Vikelis, Michail, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimi, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa, Hamed, Pittman, Alan, Mendes de Oliveira, João Ricardo, de Grandis, Maria, Richard-Loendt, Angela, Launchbury, Francesca, Althonayan, Juri, McDonnell, Gavin, Carr, Aisling, Khan, Suliman, Beetz, Christian, Bisgin, Atil, Tug Bozdogan, Sevcan, Begtrup, Amber, Torti, Erin, Greensmith, Linda, Giunti, Paola, Morrison, Patrick J., Brandner, Sebastian, Aurrand-Lions, Michel, Houlden, Henry

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