Associated Papers
Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study.
Cai M et al.
Plos One, 2025
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Reynolds HM et al.
Cold Spring Harbor Molecular Case Studies, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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