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Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 31, 2014
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and GenomicsPriya S Kishnani, Stephanie L Austin, Jose E Abdenur, et al.American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.Nature Genetics|October 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionReza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, et al.Pageof 3