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Nature Medicine|August 9, 2024
Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorderAlban Ziegler, Joanne Carroll, Jennifer M Bain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2022
Diagnostic sequencing to support genetically stratified medicine in a tertiary care settingNatalie Lippa, Louise Bier, Anya Revah-Politi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorderKhemika K Sudnawa, Wenxing Li, Sean Calamia, et al.
Epilepsy & Behavior : E&B|September 5, 2025
Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathyMichele H Potashman, Katja Rudell, Linda Abetz-Webb, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 5, 2007
Lipid-lowering effects of anti-angiopoietin-like 4 antibody recapitulate the lipid phenotype found in angiopoietin-like 4 knockout miceUrvi Desai, E-Chiang Lee, Kyu Chung, et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society|November 23, 2021
Tracking Multisite Seizure Propagation Using Ictal High-Gamma ActivitySteven Tobochnik, Lisa M Bateman, Cigdem I Akman, et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy|September 6, 2021
High-Throughput Screening of Mouse Gene Knockouts Identifies Established and Novel High Body Fat PhenotypesDavid R Powell, Jean-Pierre Revelli, Deon D Doree, et al.
American Journal of Physiology. Endocrinology and Metabolism|November 15, 2012
Improved glycemic control in mice lacking Sglt1 and Sglt2David R Powell, Christopher M DaCosta, Jason Gay, et al.
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