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Clinical Medicine (London, England)|September 7, 2024
Utilising accessible and reproducible neurological assessments in clinical studies: Insights from use of the Neurological Impairment Scale in the multi-centre COVID-CNS studyAli M Alam, Glynn W Webb, Ceryce Collie, et al.Journal of Medical Genetics|June 1, 2005
Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variantsP K Lovelock, S Healey, W Au, et al.Science (New York, N.Y.)|January 13, 2011
KOI-126: a triply eclipsing hierarchical triple with two low-mass starsJoshua A Carter, Daniel C Fabrycky, Darin Ragozzine, et al.Science (New York, N.Y.)|March 19, 2011
Kepler detected gravity-mode period spacings in a red giant starP G Beck, T R Bedding, B Mosser, et al.American Journal of Medical Genetics. Part A|June 18, 2022
Exome sequencing identifies genetic variants in anophthalmia and microphthalmiaJingjing Li, Wei Yang, Yuejun Jessie Wang, et al.Birth Defects Research|July 11, 2024
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention StudyElizabeth E Blue, Kristin J Moore, Kari E North, et al.Birth Defects Research|March 11, 2022
Exome sequencing identifies variants in infants with sacral agenesisGeorgia Pitsava, Marcia L Feldkamp, Nathan Pankratz, et al.Nature|September 17, 2025
CRISPR activation for SCN2A-related neurodevelopmental disordersSerena Tamura, Andrew D Nelson, Perry W E Spratt, et al.Histopathology|January 31, 2025
Colorectal adenosquamous carcinoma: clinicopathologic analysis of two large cohorts and literature review confirm poor prognosis and reveal prognostic aspectsRaul S Gonzalez, Rachel K Horton, Xuchen Zhang, et al.Nature|September 28, 2017
Massively parallel de novo protein design for targeted therapeuticsAaron Chevalier, Daniel-Adriano Silva, Gabriel J Rocklin, et al.Pageof 190