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Authors: Mona Grimmel
Journal Article
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders
Brain, Volume 148, Issue 4, April 2025, Pages e24–e28, https://doi.org/10.1093/brain/awae402
Published: 12 December 2024
Journal Article
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Brain, Volume 147, Issue 7, July 2024, Pages 2471–2482, https://doi.org/10.1093/brain/awae058
Published: 22 February 2024
Journal Article
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Brain, Volume 145, Issue 6, June 2022, Pages 1939–1948, https://doi.org/10.1093/brain/awab451
Published: 03 June 2022
Journal Article
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
Brain, Volume 144, Issue 2, February 2021, Pages 574–583, https://doi.org/10.1093/brain/awaa418
Published: 18 January 2021
