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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Lookup NU author(s): Laura Powell, Dr Eric OlingerORCiD, Dr Sarah RiceORCiD, Miguel Barroso Gil, Ian Wilson, Dr Sally Johnson, Dr Tara Montgomery, Dr Marta Bertoli, Professor John SayerORCiD

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Author(s): Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M, Boltshauser E, Sayer JA

Publication type: Article

Publication status: Published

Journal: Brain Communications

Year: 2021

Volume: 3

Issue: 3

Print publication date: 16/07/2021

Online publication date: 16/07/2021

Acceptance date: 27/05/2021

Date deposited: 19/10/2023

ISSN (print): 0006-8950

ISSN (electronic): 2632-1297

Publisher: Oxford University Press

URL: https://doi.org/10.1093/braincomms/fcab163

DOI: 10.1093/braincomms/fcab163

PubMed id: 34423300

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