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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

by Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Stenton, Sarah L, Walker, Susan, Ljungdahl, Alicia, Lord, Jenny, Ganesh, Vijay S, Ma, Jialan, Martin-Geary, Alexandra C, Lemire, Gabrielle, D'Souza, Elston N, Dong, Shan, Ellingford, Jamie M, Adams, David R, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E, Berger, Seth I, Bernstein, Jonathan A, Brown, Natasha J, Burrage, Lindsay C, Chapman, Kimberly, Compton, Alison G, Cunningham, Chloe A, D'Souza, Precilla, Délot, Emmanuèle C, Dias, Kerith-Rae, Elias, Ellen R, Evans, Carey-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L, Gallacher, Lyndon, Genetti, Casie A, Grant, Christina L, Haack, Tobias, Kuechler, Alma, Lalani, Seema R, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J, Liebelt, Jan E, Lockhart, Paul J, Ma, Alan S, Macnamara, Ellen F, Maurer, Taylor M, Mendez, Hector R, Montgomery, Stephen B, Nassogne, Marie-Cécile, Neumann, Serena, O'Leary, Melanie, Palmer, Elizabeth E, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L, Reuter, Chloe M, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A, Sachdev, Rani, Simons, Cas, Sisodiya, Sanjay M, Snell, Penny, Clair, Laura, Stark, Zornitza, Tan, Tiong Yang, Tan, Natalie B, Temple, Suzanna El, Thorburn, David R, Tifft, Cynthia J, Uebergang, Eloise, VanNoy, Grace E, Vilain, Eric, Viskochil, David H, Wedd, Laura, Wheeler, Matthew T, White, Susan M, Wojcik, Monica, Wolfe, Lynne A, Wolfenson, Zoe, Xiao, Changrui, Zocche, David, Rubenstein, John L, Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M, Baralle, Diana, Depienne, Christel, MacArthur, Daniel G, Howson, Joanna Mm, Sanders, Stephan J, O'Donnell-Luria, Anne, Whiffin, Nicola
Published in medRxiv : the preprint server for health sciences (09.04.2024)
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