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International Journal of Medical Informatics|April 13, 2025
Automated phenotyping of mild cognitive impairment and Alzheimer's disease and related dementias using electronic health recordsRuoqi Wei, Stephanie S Buss, Rebecca Milde, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Science (New York, N.Y.)|November 23, 2013
The intestinal microbiota modulates the anticancer immune effects of cyclophosphamideSophie Viaud, Fabiana Saccheri, Grégoire Mignot, et al.
Nature Communications|December 8, 2018
Neural network analysis of sleep stages enables efficient diagnosis of narcolepsyJens B Stephansen, Alexander N Olesen, Mads Olsen, et al.
Neurology|January 5, 2024
Validation of the RBD Symptom Severity Scale in the North American Prodromal Synucleinopathy ConsortiumParichita Choudhury, Joyce K Lee-Iannotti, Andrea O Busicescu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2023
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7Liselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
The Journal of Allergy and Clinical Immunology|June 14, 2011
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotypeRomain Micol, Lilia Ben Slama, Felipe Suarez, et al.
European Journal of Neurology|June 20, 2020
Deciphering the natural history of SCA7 in childrenM G Bah, D Rodriguez, C Cazeneuve, et al.
Research Square|September 24, 2024
Automated Medical Records Review for Mild Cognitive Impairment and DementiaRuoqi Wei, Stephanie S Buss, Rebecca Milde, et al.
Brain : a Journal of Neurology|October 25, 2024
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohortsSophie N M Binks, Katherine S Elliott, Sergio Muñiz-Castrillo, et al.
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