Resultados de búsqueda - Shirley Nieves‐Rodriguez
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1
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue por Deirdre D. Scripture-Adams, Kevin N. Chesmore, Florian Barthélémy, Richard T. Wang, Shirley Nieves‐Rodriguez, Derek W. Wang, Ekaterina Mokhonova, Emilie D. Douine, Jijun Wan, Isaiah Little, Laura Rabichow, Stanley F. Nelson, M. Carrie Miceli
Publicado 2022Artigo -
2
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases por Hane Lee, Alden Huang, Lee-kai Wang, Amanda J. Yoon, Genecee Renteria, Ascia Eskin, Rebecca Signer, Naghmeh Dorrani, Shirley Nieves‐Rodriguez, Jijun Wan, Emilie D. Douine, Jeremy D. Woods, Esteban C. Dell’Angelica, Brent L. Fogel, Martín G. Martín, Manish J. Butte, Neil H. Parker, Richard T. Wang, Perry B. Shieh, Derek A. Wong, Natalie M. Gallant, Kathryn Singh, Yael Asher, Janet S. Sinsheimer, Deborah Krakow, Sandra K. Loo, Patrick Allard, Jeanette C. Papp, Christina G.S. Palmer, Julián A. Martínez-Agosto, Stanley F. Nelson
Publicado 2019Artigo -
3
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes por 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
Publicado 2022Artigo
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Biology
Gene
Genetics
Bioinformatics
Alternative splicing
Cancer genome sequencing
Cell biology
Computational biology
Cortical dysplasia
Corticogenesis
DNA sequencing
Duchenne muscular dystrophy
Dystrophin
Embryonic stem cell
Endocrinology
Environmental health
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Exome
Exome sequencing
Exon
Exon skipping
Gene expression
Genome
Genomics
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Mendelian inheritance
Muscular dystrophy
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