학술논문
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'학술논문'
에서 검색결과 730건 | 목록
1~20
Academic Journal
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Annals of Clinical and Translational Neurology. 11(10):2745-2755
Conference
Coelli, Stefania; Calcagno, Alessandra; Iascone, Eleonora; Gaspari, Ludovica; Canevini, Maria Paola; Bianchi, Anna Maria
2022 IEEE 21st Mediterranean Electrotechnical Conference (MELECON) Electrotechnical Conference (MELECON), 2022 IEEE 21st Mediterranean. :585-589 Jun, 2022
Academic Journal
Bonaventura, Eleonora; Bruschi, Fabio; Alberti, Luisella; Antonello, Clara; Arrigoni, Filippo; Balestriero, Marina; Borsani, Barbara; Cappelletti, Laura; Cattaneo, Elisa; Ferrario, Matilde; Fiore, Giulia; Iascone, Maria; Izzo, Giana; Lucchi, Simona; Parazzini, Cecilia; Perrone Donnorso, Michela; Spaccini, Luigina; Vaia, Ylenia; Veggiotti, Pierangelo; Verduci, Elvira; Zuccotti, Gianvincenzo; Cereda, Cristina; Tonduti, Davide
International Journal of Neonatal Screening. December, 2025, Vol. 11 Issue 4
Academic Journal
Fabiani, Marco; Micolonghi, Caterina; Caroselli, Silvia; Savio, Camilla; Petrucci, Simona; Tini, Giacomo; Musumeci, Beatrice; Pagannone, Erika; De Fazio, Ludovica; Germani, Aldo; Visco, Vincenzo; Pizzuti, Antonio; Veneziano, Liana; Marchionni, Enrica; Mango, Ruggiero; Pezzoli, Laura; Bottillo, Irene; Lucca, Camilla; Scatigno, Agnese; Goisis, Lucrezia; Cappuccini, Francesca; Ciccone, Maria Pia; Ballerini, Adelaide; Gozzini, Alessia; Onofri, Valerio; Cristalli, Carlotta Pia; Latini, Andrea; D’Angelantonio, Daniela; Gualandi, Francesca; Tortora, Giada; Magliozzi, Monia; Novelli, Antonio; Rossi, Cesare; Grammatico, Paola; Sangiuolo, Federica; Girolami, Francesca; Iascone, Maria; Olivotto, Iacopo; Autore, Camillo; Rubattu, Speranza; Piane, Maria
European Journal of Human Genetics. 33(11):1462-1473
Academic Journal
Proceedings of the 18th International Joint Conference on Biomedical Engineering Systems and Technologies. :406-413
Academic Journal
Marchetti, Giulia Bruna; Rosina, Erica; Meossi, Camilla; Mura, Michela; Pezzani, Lidia; Selicorni, Angelo; Bedeschi, Maria Francesca; Tenconi, Romano; Agostoni, Carlo; Finelli, Palma; De Matteis, Sara; Di Fede, Elisabetta; Massa, Valentina; Pezzoli, Laura; Gervasini, Cristina; Iascone, Maria; Milani, Donatella
Academic Journal
Acta Myologica. 44(3)
Academic Journal
Kubisch, Christian; Cogne, Benjamin; Rabin, Rachel; Kessler, Elena; Chappé, Céline; Brugger, Melanie; Jorge, Alexander A.L.; Short, John; Posey, Jennifer E.; Szakszon, Katalin; Bedeschi, Maria Francesca; Yuan, Bo; Brunet, Theresa; Chong, Hey J.; Poths, Karin; Josifova, Dragana; Maeding, Nicole; Sidlow, Richard; Nevay, Dayna-Lynn; Mehta, Lakshmi; Gangi, Silvana; Pappas, John; Cope, Heidi; Schrauwen, Isabelle; Hüning, Irina; Banka, Siddharth; Powell-Hamilton, Nina; Lyon, Gholson J.; Wieczorek, Dagmar; Leal, Suzanne M.; Courtin, Thomas; Fernandes, Erica; Harasink, Sue Moyer; Kamsteeg, Erik-Jan; Afenjar, Alexandra; Tan, Queenie K.G.; Marchi, Elaine; Brick, Lauren; Cardenas, Paul; Deb, Wallid; Wagner, Matias; Sullivan, Jennifer; Begtrup, Amber; Platzer, Konrad; Lessel, Davor; Oegema, Renske; Mancardi, Margherita; Kölbel, Heike; Haack, Tobias B.; Kuechler, Alma; Capra, Valeria; Fitzgerald, Kristi K.; Baresic, Anja; Chinn, Ivan K.; Rezende, Raissa C.; Odent, Sylvie; Kozenko, Mariya; Morel, Chantal F.; Network, Undiagnosed Diseases; Tolosa, Eva; Dubourg, Christèle; Sebastian, Jessica; Keren, Boris; Robert, Leema; Goenka, Anu; Lessel, Ivana; Jin, Jay J.; Gucsavas-Calikoglu, Muge; Chandler, Kate E.; Scala, Marcello; Rekab, Aisha; Madan-Khetarpal, Suneeta; Perilla-Young, Yezmin; Leppälä, Juha; de la Calle-Martín, Oscar; Conboy, Erin; Isidor, Bertrand; George-Abraham, Jaya K.; Järvelä, Irma; May, Jonathan; Dilena, Robertino; Averdunk, Luisa; Luu, Sharon M.; Hanker, Britta; Pastore, Matthew T.; Strunk, Dirk; Nigro, Vincenzo; Elgizouli, Magdeldin; Iascone, Maria; Menendez, Beatriz; Kalinauskiene, Ruta; Besnard, Thomas; Byrne, Susan; Romano, Ferruccio; Lupski, James R.; Brager, Rae; Hadonou, Medard
Am J Hum Genet
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I,Iascone , M, Isidor, B, Järvelä, I, Jin, J J, Jorge, A A L, Josifova, D, Kalinauskiene, R, Kamsteeg, E-J, Keren, B, Kessler, E, Kölbel, H & Banka, S 2025, 'DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders', American Journal of Human Genetics, vol. 112, no. 2, pp. 394-413. https://doi.org/10.1016/j.ajhg.2024.12.012
The American Journal of Human Genetics
American Journal of Human Genetics, 112, 2, pp. 394-413
Undiagnosed Diseases Network, Lessel, I, Baresic, A, Chinn, I K, May, J, Goenka, A, Chandler, K E, Posey, J E, Afenjar, A, Averdunk, L, Bedeschi, M F, Besnard, T, Brager, R, Brick, L, Brugger, M, Brunet, T, Byrne, S, Calle-Martín, O D L, Capra, V, Cardenas, P, Chappé, C, Chong, H J, Cogne, B, Conboy, E, Cope, H, Courtin, T, Deb, W, Dilena, R, Dubourg, C, Elgizouli, M, Fernandes, E, Fitzgerald, K K, Gangi, S, George-Abraham, J K, Gucsavas-Calikoglu, M, Haack, T B, Hadonou, M, Hanker, B, Hüning, I,
The American Journal of Human Genetics
Academic Journal
Adelson, Sophia; Agolini, Emanuele; Al-Maraghi, Aljazi; Alex, Karla; Alkuraya, Fowzan; Akil, Ammira Alshabeeb; Alshehri, Munira; Ansel, Derek; Armstrong, Niki; Aujla, Matthew; Bailey, Don; Baker, Mei; Balciuniene, Jorune; Barry, Andrew; Bennetts, Bruce; Berenger, Melissa; Berg, Jonathan; Bernstein, Donna; Bhatatcharjee, Arindam; Bhatt, Sucheta; Bick, David; Bishop, Tracey; Bitton, Asaf; Boemer, François; Bonhomme, Natasha; Bowley, George; Boyd, Brenna; Brennenstuhl, Heiko; Brenner, Steven; Bresnahan, Mairead; Brewster, Thomas; Brooks, P.J.; Broomberg, Katya; Brower, Amy; Gentile, Mattia; Giordano, Jessica; Jensen, Ulrich Glumer; Godler, David; Gold, Nina; Goldenberg, Aaron; GoldenGrant, Katie; Goldman, Cassie; González de Aledo-Castillo, José Manuel; Gottlieb, Daniel; Green, Robert; Greene, Christopher; Greenstein, Brooke; Grosse, Scott; Grueters, Annette; Gumus, Gulcin; Hagman, Kelly; Hall, Kevin; Harmant, Aymeric; Hartmanis, Sally; Hayeems, Robin; Heald, Rose; Hegde, Madhuri; Heiner-Fokkema, Rebecca; Henneman, Lidewij; Hernan, Becca; Hobbs, Charlotte; Holm, Ingrid; Horwitz, Layla; Hu, Zhanzhi; Iascone, Maria; Irvine, Ken; Jin, Guanjun; Kalbfleisch, Kelsey; Nyegaard, Mette; O'Sullivan, Justin; Ojodu, Jelili; Orsini, Paola; Oza, Andrea; Paleologos, Katrina; Parad, Richard; Peay, Holly; Pelo, Matthew; Philstrom, Carolyn; Pichard, Dominique; Pichini, Amanda; Pirreca, Michelle; Ponikowska, Malgorzata; Ponte, Amy; Posch, Andreas; Powell, Cynthia; Protopsaltis, Liana; Quevedo, Yeyson; Raia, Marianna; Reimer, Rebecca; Rohrwasser, Andy; Rollier, Paul; Rottensten, Lene; Rtskhiladze, Irakli; Sachedina, Nabihah; Sahyoun, George; Satija, Aditi; Schaaf, Christian; Schleit, Jennifer; Scott, Richard; Scully, Lauren; Seeloff, Stacey; Brown, Gemma; Buchanan, James; Bupp, Caleb; Cameron, Candance; Capacchione, Lauren; Carli, Diana; Ceballo, Onassis Castillo; Chan, Kee; Chance, Jillian; Charalambidou, Georgia; Chen, Winnie; Chen, Yun-Ru; Chung, Wendy; Chung, Brian; Clarke, Megan; Clasper, Susan; Cole, F. Sessions; Cope, Heidi; Coury, Stephanie; Cox, Tony; Dangouloff, Tamara; Paul Daniel, Earnest James; Danielsen, Katrin Eivindardottir; Davoine, Emeline; Defay, Tom; Gandhi, Geethanjali Devadoss; Dewulf, Joseph; Diller, Lisa; Dixit, Pakhi; Dolle, Martijn; Downie, Lilian; Drake, Erin; Drury, Suzanne; Duintjer, Annelotte; Duz, Bugrahan; Eckstein, David; Ellinwood, Matthew; Kander, Ines; Kaplun, Lucy; Kasperaviciute, Dalia; Kassahn, Karin; Kauko, Leni; Kaukonen, Riina; Kelly, Nicole; Khangsar, Dhayo; King, Jovanka; Kingsley, Clare; Kingsmore, Stephen; Kirms, Brian; Klein, Rachel; Koelker, Stefan; Kousa, Youssef; Krupoderova, Elizaveta; Kruszka, Paul; Langley, Katherine; Leckie, Ciara; Lecommandeur, Emmanuelle; Ledbetter, David; Lee, Pamela; Lee, Beomhee; Leve, Camille; Lewis, Celine; Lewis, Anna; Liu, Ruby; Longon, Mauro; Lundquist, Alberte; Lunke, Sebastian; MacDuffie, Kate; Malhotra, Ankit; Marcelis, Lionel; Martinez-Fresno, Maria; Matthijs, Gert; Melbardis, Roberts; Merritt, Jessica; Servais, Laurent; Shah, Nidhi; Siitonen, Maija; Singh, Sikha; Siu, Carol; Smith, Hadley; King, Lisa Sniderman; Sondheimer, Neal; St George, Lourdes; Stark, Zornitza; Steiner, Robert; Stoltze, Ulrik; Stray-Pedersen, Asbjørg; Sund, Kristen; Tafas, Paris; Teekakirikul, Polakit; Thanos, Dimitrios; Thurm, Audrey; To, Meekai; Tsipouras, Petros; Tuff-Lacey, Alice; Turner, Heather; Twiss, Philip; Ulph, Fiona; Uribe, Daniel; Urv, Tiina; Vacher, Cora; Van Den Bogaert, Kris; van der Burg, Mirjam; Van Steijvoort, Eva; Veloudi, Yiota; Vengoechea, Elizabeth; Voorhoeve, Els; Vu, Martin; Wasserstein, Melissa; Watson, Michael; Webb, Bryn; Ellsworth, Katarzyna; Badji, Radja Messai; Wedell, Anna; Elsea, Sarah; Metherell, Lou; Westover, Thomas; Encina, Nicolas; Mikkelsen, Nanna Balle; Wiedemann, Alexandra; Etheredge, Harriet; Milko, Laura; Wright, Meredith; Faivre, Laurence; Miller, Nicole; Wu, Cindy; Ferlini, Alessandra; Minten, Thomas; Yeo, Julie; Ferrie, Monica; Morgan, Sian; Yin-Hsiu Chien, Nancy; Finkel, Terri; Mosiewicz, Katarzyna; Yusuff, Shamila; Furu, Petra; Mütze, Ulrike; Zemojtel, Tomasz; Galarza-Cornejo, Jamie; Nicklen, Sukhvinder; Zettler, Bethany; Gao, Ya; Niemela, Minna; Zhao, Zhengyan; Garcia-Villoria, Judit; Niu, Dau-Ming; Ziff, Joanna; Gardner, Liz; Norris, Sarah; Zimmerman, Rebekah; Gaviglio, Amy; Novelli, Antonio; Zuccolo, Michela; Gelb, Michael; Nusair, Arwa; Berg, Jonathan S. ; Chung, Wendy K. ; Cope, Heidi L. ; Eckstein, David J. ; García-Villoria, Judit ; Gelb, Michael H. ; González De Aledo-Castillo, José Manuel ; Golden-Grant, Katie ; Parad, Richard B. ; Sund, Kristen L. ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine January 2026 28(1)
Academic Journal
Bottillo, Irene; Ciccone, Maria Pia; Magliozzi, Monia; Pilichou, Kalliopi; Girotto, Giorgia; Girolami, Francesca; Cecconi, Massimiliano; D'Argenio, Valeria; Novelli, Valeria; Coiana, Alessandra; Formicola, Daniela; Micaglio, Emanuele; Tortora, Giada; Gualandi, Francesca; Petrucci, Simona; Castori, Marco; Resta, Nicoletta; Vestri, Anna Rita; Iascone, Maria; Grammatico, Paola
Journal of Molecular and Cellular Cardiology. 199:46-50
Academic Journal
Seaby, Eleanor; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D’arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco; Koboldt, Daniel; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi; O’donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril; Ennis, Sarah
Brain
Academic Journal
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; Duis, Jessica; Hannig, Vickie; Srivastava, Siddharth; Barkoudah, Elizabeth; Hauser, Natalie S; van den Born, Myrthe; Hamiel, Uri; Henig, Noa; Baris Feldman, Hagit; McKee, Shane; Krapels, Ingrid P C; Lei, Yunping; Todorova, Albena; Yordanova, Ralitsa; Atemin, Slavena; Rogac, Mihael; McConnell, Vivienne; Chassevent, Anna; Barañano, Kristin W; Shashi, Vandana; Sullivan, Jennifer A; Peron, Angela; Iascone, Maria; Canevini, Maria P; Friedman, Jennifer; Reyes, Iris A; Kierstein, Janell; Shen, Joseph J; Ahmed, Faria N; Mao, Xiao; Almoguera, Berta; Blanco-Kelly, Fiona; Platzer, Konrad; Treu, Ariana-Berenike; Quilichini, Juliette; Bourgois, Alexia; Chatron, Nicolas; Januel, Louis; Rougeot, Christelle; Carere, Deanna Alexis; Monaghan, Kristin G; Rousseau, Justine; Myers, Kenneth A; Sadikovic, Bekim; Akhtar, Asifa; Campeau, Philippe M
Am J Hum Genet
American Journal of Human Genetics, vol 111, iss 7
American Journal of Human Genetics, vol 111, iss 7
Academic Journal
Bonati, Maria Teresa; Baldoli, Cristina; Taurino, Jacopo; Marchetti, Daniela; Larizza, Lidia; Finelli, Palma; Iascone, Maria
Genes. September, 2024, Vol. 15 Issue 9
Academic Journal
Zygmunt, Aldona; Ververi, Athina; Siu, Carol; Ponzi, Emanuela; Bertini, Enrico; Xinwen, Huang; King, Jovanka; Kassahn, Karin; Koutsogianni, Maria; Valente, Maria Luisa; Pelo, Matthew J.; Gentile, Mattia; Orsini, Paola; Ficarella, Romina; Sansen, Stefaan; Rui, Xiao; Zhengyan, Zhao; Goldenberg, Aaron; Satija, Aditi; Lundquist, Alberte; Ferlini, Alessandra; Wiedemann, Alexandra; Tuff-Lacey, Alice; Al-Maraghi, Aljazi; Pichini, Amanda; Akil, Ammira Alshabeeb; Brower, Amy; Gaviglio, Amy; Ponte, Amy; Oza, Andrea; Posch, Andreas; Barry, Andrew; Rohrwasser, Andy; Malhotra, Ankit; Lewis, Anna; Wedell, Anna; Duintjer, Annelotte; Grueters, Annette; Novelli, Antonio; Bhatatcharjee, Arindam; Nusair, Arwa; Bitton, Asaf; Stray-Pedersen, Asbjørg; Thurm, Audrey; Harmant, Aymeric; Hernan, Becca; Lee, Beomhee; Zettler, Bethany; Boyd, Brenna; Chung, Brian; Kirmse, Brian; Greenstein, Brooke; Bennetts, Bruce; Webb, Bryn; Duz, Bugrahan; Bupp, Caleb; Level, Camille; Cameron, Candance; Philstrom, Carolyn; Goldman, Cassie; Lewis, Celine; Hobbs, Charlotte; Schaaf, Christian; Greene, Christopher; Leckie, Ciara; Wu, Cindy; Kingsley, Clare; Vacher, Cora; Powell, Cynthia; Kasperaviciute, Dalia; Gottlieb, Daniel; Uribe, Daniel; Niu, Dau-Ming; Bick, David; Eckstein, David; Godler, David; Ledbetter, David; Ansel, Derek; Khangsar, Dhayo; Carli, Diana; Thanos, Dimitrios; Pichard, Dominique; Bailey, Don; Bernstein, Donna; Paul Daniel, Earnest James; Vengoechea, Elizabeth; Krupoderova, Elizaveta; Voorhoeve, Els; Agolini, Emanuele; Davoine, Emeline; Lecommandeur, Emmanuelle; Drake, Erin; Van Steijvoort, Eva; Cole, F. Sessions; Ulph, Fiona; Alkuraya, Fowzan; Boemer, François; Gandhi, Geethanjali Devadoss; Brown, Gemma; Bowley, George; Sahyoun, George; Charalambidou, Georgia; Matthijs, Gert; Jin, Guanjun; Gumus, Gulcin; Smith, Hadley; Etheredge, Harriet; Turner, Heather; Cope, Heidi; Brennenstuhl, Heiko; Peay, Holly; Pickering, Holly; Kander, Ines; Holm, Ingrid; Rtskhiladze, Irakli; Buchanan, James; Galarza-Cornejo, Jamie; Ojodu, Jelili; Schleit, Jennifer; Giordano, Jessica; Merritt, Jessica; Chance, Jillian; Ziff, Joanna; Berg, Jonathan; Balciuniene, Jorune; González de Aledo-Castillo, José Manuel; Dewulf, Joseph; Garcia-Villoria, Judit; Yeo, Julie; O'Sullivan, Justin; Alex, Karla; Ellsworth, Katarzyna; Mosiewicz, Katarzyna; MacDuffie, Kate; Langley, Katherine; GoldenGrant, Katie; Danielsen, Katrin Eivindardottir; Paleologos, Katrina; Broomberg, Katya; Chan, Kee; Hagman, Kelly; Kalbfleisch, Kelsey; Irvine, Ken; Hall, Kevin; Van Den Bogaert, Kris; Sund, Kristen; Milko, Laura; Capacchione, Lauren; Scully, Lauren; Faivre, Laurence; Servais, Laurent; Horwitz, Layla; Rottensten, Lene; Kauko, Leni; Protopsaltis, Liana; Henneman, Lidewij; Downie, Lilian; Marcelis, Lionel; Diller, Lisa; King, Lisa Sniderman; Gardner, Liz; Metherell, Lou; St George, Lourdes; Kaplun, Lucy; Hegde, Madhuri; Siitonen, Maija; Bresnahan, Mairead; Ponikowska, Malgorzata; Iascone, Maria; Martinez-Fresno, Maria; Raia, Marianna; Dolle, Martijn; Vu, Martin; Aujla, Matthew; Ellinwood, Matthew; Pelo, Matthew; Longoni, Mauro; To, Meekai; Clarke, Megan; Baker, Mei; Berenger, Melissa; Wasserstein, Melissa; Wright, Meredith; Nyegaard, Mette; Gelb, Michael; Watson, Michael; Zuccolo, Michela; Pirreca, Michelle; Niemela, Minna; van der Burg, Mirjam; Ferrie, Monica; Alshehri, Munira; Sachedina, Nabihah; Yin-Hsiu Chien, Nancy; Mikkelsen, Nanna Balle; Bonhomme, Natasha; Sondheimer, Neal; Encina, Nicolas; Kelly, Nicole; Miller, Nicole; Shah, Nidhi; Armstrong, Niki; Gold, Nina; Ceballo, Onassis Castillo; Dixit, Pakhi; Lee, Pamela; Tafas, Paris; Kruszka, Paul; Rollier, Paul; Furu, Petra; Tsipouras, Petros; Twiss, Philip; Brooks, P.J.; Teekakirikul, Polakit; Klein, Rachel; Badji, Radja Messai; Heiner-Fokkema, Rebecca; Reimers, Rebecca; Zimmerman, Rebekah; Parad, Richard; Scott, Richard; Kaukonen, Riina; Green, Robert; Steiner, Robert; Melbardis, Roberts; Hayeems, Robin; Heald, Rose; Liu, Ruby; Hartmanis, Sally; Elsea, Sarah; Norris, Sarah; Grosse, Scott; Lunke, Sebastian; Yusuff, Shamila; Morgan, Sian; Singh, Sikha; Adelson, Sophia; Seeloff, Stacey; Koelker, Stefan; Coury, Stephanie; Kingsmore, Stephen; Brenner, Steven; Bhatt, Sucheta; Nicklen, Sukhvinder; Clasper, Susan; Drury, Suzanne; Dangouloff, Tamara; Finkel, Terri; Brewster, Thomas; Minten, Thomas; Westover, Thomas; Urv, Tiina; Defay, Tom; Zemojtel, Tomasz; Cox, Tony; Bishop, Tracey; Jensen, Ulrich Glumer; Stoltze, Ulrik; Mütze, Ulrike; Chung, Wendy; Chen, Winnie; Gao, Ya; Quevedo, Yeyson; Veloudi, Yiota; Kousa, Youssef; Chen, Yun-Ru; Hu, Zhanzhi; Stark, Zornitza; Bick, Sarah ; Gehlenborg, Nils ; Amendola, Laura M. ; Coffey, Alison J. ; Kirschner, Janbernd ; Russell, Bianca E. ; Sund, Kristen L. ; Taft, Ryan J. ; Zouk, Hana ; Green, Robert C. ; Gold, Nina B.
In Genetics in Medicine July 2025 27(7)
Academic Journal
Planas-Serra, Laura ; Rodríguez-Ruiz, Mar ; Anderson, Eric Nathaniel ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina ; Schlüter, Agatha ; Verdura, Edgard ; Gereñu, Gorka ; Jiménez-Zúñiga, Andrés ; Iñañez, Alejandro ; Casas, Josefina ; Bech, Joan Josep ; De La Torre, Carolina ; Martínez, Juan José ; Ruiz, Montserrat ; Fourcade, Stéphane ; Iascone, Maria ; Tenconi, Romano ; Meier, Kolja ; Diegmann, Susann ; Lee, Reagan H.C. ; Beland, Bakht ; Mir, Asif ; Darvish, Hossein ; Chung, Wendy ; Karimiani, Ehsan Ghayoor ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Öhman, Susanna ; Järvelä, Irma ; Granvik, Johanna ; Reinson, Karit ; Kurvinen, Elvira ; Õunap, Katrin ; Schwan, Annemarie ; Platzer, Konrad ; Kalayci, Tuğba ; Sharifi, Shahrashoub ; Korenke, G. Christoph ; Houlden, Henry ; Maroofian, Reza ; López de Munaín, Adolfo ; Casasnovas, Carlos ; Pandey, Udai Bhan ; Pujol, Aurora
In The American Journal of Human Genetics 6 November 2025 112(11):2643-2664
Academic Journal
Carrer, Alessia; Crupano, Francesco Maria; Rinaldi, Berardo; Scuvera, Giulietta; Cesaretti, Claudia; Nicotra, Valeria; Gangi, Silvana; Colombo, Lorenzo; Araimo, Gabriella; Tagliabue, Matilde; Marchetti, Daniela; Pezzoli, Laura; Garzo, Maria; Accurti, Veronica; Volpe, Grazia; Boito, Simona; Finelli, Palma; Fumagalli, Monica; Bedeschi, Maria Francesca; Iascone, Maria; et al
Publisher: MDPI ISSN: 2073-4425
Academic Journal
Picciolli, Irene; Ratti, Angelo; Rinaldi, Berardo; Baban, Anwar; Iascone, Maria; Francescato, Gaia; Cappelleri, Alessia; Magliozzi, Monia; Novelli, Antonio; Parlapiano, Giovanni; Colli, Anna Maria; Persico, Nicola; Carugo, Stefano; Mosca, Fabio; Bedeschi, Maria Francesca
Italian Journal of Pediatrics. August 26, 2024, Vol. 50 Issue 1
Academic Journal
Castiglioni, Silvia; Pezzoli, Laura; Pezzani, Lidia; Lettieri, Antonella; Di Fede, Elisabetta; Cereda, Anna; Ancona, Silvia; Gallina, Andrea; Colombo, Elisa Adele; Parodi, Chiara; Grazioli, Paolo; Taci, Esi; Milani, Donatella; Iascone, Maria; Massa, Valentina; Gervasini, Cristina
Orphanet Journal of Rare Diseases. December 20, 2024, Vol. 19 Issue 1
Academic Journal
Teutonico, Federica; Volpe, Clara; Proto, Alice; Costi, Ilaria; Cavallari, Ugo; Doneda, Paola; Iascone, Maria; Sturiale, Luisella; Barone, Rita; Martinelli, Stefano; Vignoli, Aglaia
Neurogenetics. 25:281-286
Academic Journal
Meossi, Camilla; Carrer, Alessia; Ciaccio, Claudia; Pezzoli, Laura; Pezzani, Lidia; Silipigni, Rosa Maria; Sciacca, Francesca L.; Tenconi, Romano; Esposito, Silvia; De Laurentiis, Arianna; Pantaleoni, Chiara; Marchisio, Paola; Natacci, Federica; D’Arrigo, Stefano; Iascone, Maria; Milani, Donatella
Genes. November, 2024, Vol. 15 Issue 11
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