Risultati della ricerca - Bryan C. Mak

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  1. 1
    Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

    Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care di Rossana Sanchez Russo, Michael J. Gambello, Melissa M. Murphy, Katrina Aberizk, Emily Black, T. Lindsey Burrell, Grace Carlock, Joseph F. Cubells, Michael T. Epstein, Roberto España, Katrina Goines, Ryan M. Guest, Cheryl Klaiman, Sookyong Koh, Elizabeth J. Leslie, Longchuan Li, Derek M. Novacek, Celine A. Saulnier, Esra Sefik, Sarah Shultz, Elaine F. Walker, Stormi P. White, Hallie Averbach, Gary J. Bassell, Shanthi Cambala, Tamara Caspary, David J. Cutler, Paul A. Dawson, Michael P. Epstein, H. Richard Johnston, Bryan C. Mak, Tamika Malone, Trenell J. Mosley, Ava Papetti, Rebecca M. Pollak, Ryan H. Purcell, Nikisha Sisodoya, Steven A. Sloan, Stephen T. Warren, David Weinshenker, Zhexing Wen, Michael E. Zwick, Jennifer G. Mullé

    Pubblicazione 2021
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  2. 2
    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

    Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes di Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G. Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne‐Sophie Denommé‐Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C. Mak, Julián A. Martínez-Agosto, Michael B. Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M.B. Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M. Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, Gabrielle Brown, Manish J. Butte, Esteban C. Dell’Angelica, Naghmeh Dorrani, Emilie D. Douine, Brent L. Fogel, Irma Gutierrez, Alden Huang, Deborah Krakow, Hane Lee, Sandra K. Loo, Bryan C. Mak, Martín G. Martín, Julián A. Martínez-Agosto, Elisabeth McGee, Stanley F. Nelson, Shirley Nieves‐Rodriguez, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Genecee Renteria, Janet S. Sinsheimer, Jijun Wan, Lee-kai Wang, Katherine Wesseling Perry, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Koh Nagata

    Pubblicazione 2022
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