by Maioli, Margherita, Gnoli, Maria, Boarini, Manila, Tremosini, Morena, Zambrano, Anna, Pedrini, Elena, Mordenti, Marina, Corsini, Serena, D’Eufemia, Patrizia, Versacci, Paolo, Celli, Mauro, Sangiorgi, Luca
Published in European journal of human genetics : EJHG (01.07.2019)

by D’Onofrio, Gianluca, Accogli, Andrea, Severino, Mariasavina, Caliskan, Haluk, Kokotović, Tomislav, Blazekovic, Antonela, Jercic, Kristina Gotovac, Markovic, Silvana, Zigman, Tamara, Goran, Krnjak, Barišić, Nina, Duranovic, Vlasta, Ban, Ana, Borovecki, Fran, Ramadža, Danijela Petković, Barić, Ivo, Fazeli, Walid, Herkenrath, Peter, Marini, Carla, Vittorini, Roberta, Gowda, Vykuntaraju, Bouman, Arjan, Rocca, Clarissa, Alkhawaja, Issam Azmi, Murtaza, Bibi Nazia, Rehman, Malik Mujaddad Ur, Al Alam, Chadi, Nader, Gisele, Mancardi, Maria Margherita, Giacomini, Thea, Srivastava, Siddharth, Alvi, Javeria Raza, Tomoum, Hoda, Matricardi, Sara, Iacomino, Michele, Riva, Antonella, Scala, Marcello, Madia, Francesca, Pistorio, Angela, Salpietro, Vincenzo, Minetti, Carlo, Rivière, Jean-Baptiste, Srour, Myriam, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Vernes, Sonja Catherine, Zara, Federico, Striano, Pasquale, Nagy, Vanja
Published in Human genetics (01.07.2023)

by Hwang, Young-Hwan, Conklin, John, Chan, Winnie, Roslin, Nicole M., Liu, Jannel, He, Ning, Wang, Kairong, Sundsbak, Jamie L., Heyer, Christina M., Haider, Masoom, Paterson, Andrew D., Harris, Peter C., Pei, York
Published in Journal of the American Society of Nephrology (01.06.2016)

by West, Elizabeth Casey, Chiappetta, Marco, Mattingly, Aubrey Anne, Congedo, Maria Teresa, Evangelista, Jessica, Campanella, Annalisa, Sassorossi, Carolina, Flamini, Sara, Rossi, Teresa, Pistoni, Mariaelena, Abenavoli, Ludovico, Margaritora, Stefano, Lococo, Filippo, Boccuto, Luigi
Published in Clinical genetics (01.06.2024)

by Petrarca, Laura, Guida, Valentina, Nenna, Raffaella, De Luca, Alessandro, Goldoni, Marina, Bernardini, Laura, Conti, Maria Giulia, Cimino, Giuseppe, Mancino, Enrica, Masuelli, Laura, Poli, Piercarlo, Midulla, Fabio
Published in Pediatric pulmonology (01.04.2025)

by Andolfo, Immacolata, Russo, Roberta, Rosato, Barbara Eleni, Manna, Francesco, Gambale, Antonella, Brugnara, Carlo, Iolascon, Achille
Published in American journal of hematology (01.12.2018)

by Baruteau, Alban-Elouen, Kyndt, Florence, Behr, Elijah R, Vink, Arja S, Lachaud, Matthias, Joong, Anna, Schott, Jean-Jacques, Horie, Minoru, Denjoy, Isabelle, Crotti, Lia, Shimizu, Wataru, Bos, Johan M, Stephenson, Elizabeth A, Wong, Leonie, Abrams, Dominic J, Davis, Andrew M, Winbo, Annika, Dubin, Anne M, Sanatani, Shubhayan, Liberman, Leonardo, Kaski, Juan Pablo, Rudic, Boris, Kwok, Sit Yee, Rieubland, Claudine, Tfelt-Hansen, Jacob, Van Hare, George F, Guyomarc’h-Delasalle, Béatrice, Blom, Nico A, Wijeyeratne, Yanushi D, Gourraud, Jean-Baptiste, Le Marec, Hervé, Ozawa, Junichi, Fressart, Véronique, Lupoglazoff, Jean-Marc, Dagradi, Federica, Spazzolini, Carla, Aiba, Takeshi, Tester, David J, Zahavich, Laura A, Beauséjour-Ladouceur, Virginie, Jadhav, Mangesh, Skinner, Jonathan R, Franciosi, Sonia, Krahn, Andrew D, Abdelsayed, Mena, Ruben, Peter C, Yung, Tak-Cheung, Ackerman, Michael J, Wilde, Arthur A, Schwartz, Peter J, Probst, Vincent
Published in European heart journal (14.08.2018)

by Liu, Caiyan, Dong, Liling, Wang, Jie, Li, Jie, Huang, Xinying, Lei, Dan, Mao, Chenhui, Chu, Shanshan, Sha, Longze, Xu, Qi, Peng, Bin, Cui, Liying, Gao, Jing
Published in Journal of medical genetics (01.06.2024)

by Lee, Sang‐Yeon, Han, Jin Hee, Carandang, Marge, Kim, Min Young, Kim, Bonggi, Yi, Nayoung, Kim, Jinho, Kim, Bong Jik, Oh, Doo‐Yi, Koo, Ja‐Won, Lee, Jun Ho, Oh, Seung‐Ha, Choi, Byung Yoon
Published in Human mutation (01.11.2020)

by Terlizzi, Vito, Castaldo, Giuseppe, Salvatore, Donatello, Lucarelli, Marco, Raia, Valeria, Angioni, Adriano, Carnovale, Vincenzo, Cirilli, Natalia, Casciaro, Rosaria, Colombo, Carla, Di Lullo, Antonella Miriam, Elce, Ausilia, Iacotucci, Paola, Comegna, Marika, Scorza, Manuela, Lucidi, Vincenzina, Perfetti, Anna, Cimino, Roberta, Quattrucci, Serena, Seia, Manuela, Sofia, Valentina Maria, Zarrilli, Federica, Amato, Felice
Published in Journal of medical genetics (01.04.2017)

by Procopio, V., Manti, S., Bianco, G., Conti, G., Romeo, A., Maimone, F., Arrigo, T., Cutrupi, M.C., Salpietro, C., Cuppari, C.
Published in Gene (30.01.2018)

by Dressman, Dallin, Buttrick, Thomas, Cimpean, Maria, Bennett, David, Menon, Vilas, Bradshaw, Elizabeth M, Vardarajan, Badri, Elyaman, Wassim
Published in Human molecular genetics (29.09.2022)

by Bjeloš, Mirjana, Ćurić, Ana, Bušić, Mladen, Rak, Benedict, Kuzmanović Elabjer, Biljana
Published in Diagnostics (Basel) (01.08.2024)

by Michaelovsky, Elena, Frisch, Amos, Carmel, Miri, Patya, Miriam, Zarchi, Omer, Green, Tamar, Basel-Vanagaite, Lina, Weizman, Abraham, Gothelf, Doron
Published in BMC genetics (17.12.2012)

by Chakravorty, Samya, Logan, Rachel, Elson, Molly J., Luke, Rebecca R., Verma, Sumit
Published in Scientific reports (30.09.2020)

by Ramesh Babu, Ramya, Maganthi, Madhuri, Datta, Dipanjana, Ng, Joanne, Krishna, Gauri, Mathew, Ann Agnes, Konanki, Ramesh, Mohanlal, Smilu, Jagadeesh, Sujatha
Published in European journal of paediatric neurology (01.09.2025)

by Liu, Junbin, Zhang, Riping, Sun, Lixia, Zheng, Yuqian, Chen, Shaowan, Chen, Shao-Lang, Xu, Yanxuan, Pang, Chi-Pui, Zhang, Mingzhi, Ng, Tsz Kin
Published in British journal of ophthalmology (01.06.2021)

by Fylaktou, Irene, Mertzanian, Anny, Farakla, Ioanna, Gryparis, Alexandros, Vasilakis, Ioannis Anargyros, Binou, Maria, Charmandari, Evangelia, Kanaka-Gantenbein, Christina, Sertedaki, Amalia
Published in Current Issues in Molecular Biology (01.10.2024)

by Müller, Philipp L., Gliem, Martin, McGuinnes, Myra, Birtel, Johannes, Holz, Frank G., Charbel Issa, Peter
Published in American journal of ophthalmology (01.02.2021)

by Bachmann-Gagescu, Ruxandra, Ishak, Gisele E, Dempsey, Jennifer C, Adkins, Jonathan, O'Day, Diana, Phelps, Ian G, Gunay-Aygun, Meral, Kline, Antonie D, Szczaluba, Krzysztof, Martorell, Loreto, Alswaid, Abdulrahman, Alrasheed, Shatha, Pai, Shashidhar, Izatt, Louise, Ronan, Anne, Parisi, Melissa A, Mefford, Heather, Glass, Ian, Doherty, Dan
Published in Journal of medical genetics (01.02.2012)