Publications by authors named "Madhura Bakshi"

8Publications

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.

Hum Mutat 2017 05 15;38(5):548-555. Epub 2017 Feb 15.

Department of Paediatrics, School of Medicine, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1002/humu.23190DOI Listing
May 2017