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Your search keyword '"Grosz, Bianca R."' showing total 3 results
Start Over Author "Grosz, Bianca R." Publisher wiley
3 results on '"Grosz, Bianca R."'

1. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing

Author

Grosz, Bianca R., primary, Parmar, Jevin M., additional, Ellis, Melina, additional, Bryen, Samantha, additional, Simons, Cas, additional, Reis, Andre L. M., additional, Stevanovski, Igor, additional, Deveson, Ira W., additional, Nicholson, Garth, additional, Laing, Nigel, additional, Wallis, Mathew, additional, Ravenscroft, Gianina, additional, Kumar, Kishore R., additional, Vucic, Steve, additional, and Kennerson, Marina L., additional

Published
2024
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2. A novel synonymousKMT2Bvariant in a patient with dystonia causes aberrant splicing

Author

Grosz, Bianca R., primary, Tisch, Stephen, additional, Tchan, Michel C., additional, Fung, Victor S. C., additional, Darveniza, Paul, additional, Fellner, Avi, additional, Kurian, Manju A., additional, McLean, Alison, additional, Tomlinson, Susan E., additional, Smyth, Renee, additional, Devery, Sophie, additional, Wu, Kathy H. C., additional, Kennerson, Marina L., additional, and Kumar, Kishore R., additional

Published
2022
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3. Long read sequencing overcomes challenges in the diagnosis ofSORDneuropathy

Author

Grosz, Bianca R., primary, Stevanovski, Igor, additional, Negri, Sara, additional, Ellis, Melina, additional, Barnes, Stephanie, additional, Reddel, Stephen, additional, Vucic, Steve, additional, Nicholson, Garth A., additional, Cortese, Andrea, additional, Kumar, Kishore R., additional, Deveson, Ira W., additional, and Kennerson, Marina L., additional

Published
2022
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