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British Journal of Clinical Pharmacology|November 13, 2021
A randomized study of the safety and pharmacokinetics of GSK3358699, a mononuclear myeloid-targeted bromodomain and extra-terminal domain inhibitorJack A Brown, Joanne Bal, Monica Simeoni, et al.
American Journal of Human Genetics|June 19, 2018
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol BiosynthesisDavid Coman, Lisenka E L M Vissers, Lisa G Riley, et al.
Biological Psychiatry. Cognitive Neuroscience and Neuroimaging|April 27, 2025
Presence, severity, and functional associations of incomplete hippocampal inversion in 22q11.2 deletion syndromeDavid Roalf, Ally Atkins, Adam Czernuszenko, et al.
The Lancet. Healthy Longevity|July 27, 2025
Measuring and monitoring the quality of dying in the UN Decade of Healthy AgeingRowan H Harwood, Jotheeswaran Amuthavalli Thiyagarajan, Afsan Bhadelia, et al.
Medrxiv : the Preprint Server for Health Sciences|December 8, 2025
Leveraging Clinical Neuroimaging to Chart Brain Structure in 22q11.2 Deletion SyndromeBenjamin Jung, J Eric Schmitt, Jakob Seidlitz, et al.
Neurology|January 6, 2017
Mutations in GABRB3: From febrile seizures to epileptic encephalopathiesRikke S Møller, Thomas V Wuttke, Ingo Helbig, et al.
Epilepsia|January 10, 2018
Defining the phenotypic spectrum of SLC6A1 mutationsKatrine M Johannesen, Elena Gardella, Tarja Linnankivi, et al.
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