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About this Biochemistry, Genetics and Molecular Biology article
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome by Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicová, Markéta; HanÄárová, Miroslava; Eichler, Evan E.; Devillard, Françoise; Moutton, Sébastien; Van-Gils, Julien; Dubourg, Christèle; Odent, Sylvie; Gerard, Bénédicte; Piton, Amélie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenaël; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sérgio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jérôme; Vitobello, Antonio; Brunetti-Pierri, Nicola is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Cappuccio, Gerarda; Sayou, Camille; Tanno, Pauline Le; Tisserant, Emilie; Bruel, Ange-Line; Kennani, Sara El; Sá, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicová, Markéta; HanÄárová, Miroslava; Eichler, Evan E.; Devillard, Françoise; Moutton, Sébastien; Van-Gils, Julien; Dubourg, Christèle; Odent, Sylvie; Gerard, Bénédicte; Piton, Amélie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenaël; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sérgio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jérôme; Vitobello, Antonio; Brunetti-Pierri, Nicola
- Publisher
- Nature Publishing Group; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1098-3600)
- Published
- 2020
- Language
- JA
- ISBN
- 9784143602000
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)