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Annals of Clinical and Translational Neurology|September 15, 2021
Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variantDaniel G Calame, Jawid M Fatih, Isabella Herman, et al.
Brain : a Journal of Neurology|February 5, 2026
Diagnostic yield of genome sequencing in children with progressive movement disordersLuca Schierbaum, Enrique Gonzalez Saez-Diez, Amy Tam, et al.
Diagnostic and Interventional Imaging|February 5, 2023
Left gastric vein embolization during TIPS placement for acute variceal bleeding has no effect on bleeding recurrence: Results of a multicenter studyPaul Calame, Mathieu Rostam, Louis d'Alteroche, et al.
Nucleic Acids Research|December 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing dataHaowei Du, Zain Dardas, Angad Jolly, et al.
Medrxiv : the Preprint Server for Health Sciences|January 8, 2026
Expanding the Clinical and Molecular Spectrum of <i>TUBB2B</i> Through Distinct Variants Identified Across Multiple FamiliesShaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, et al.
Diagnostic and Interventional Imaging|July 24, 2024
Detection and characterization of pancreatic lesion with artificial intelligence: The SFR 2023 artificial intelligence data challengeTheodore Aouad, Valerie Laurent, Paul Levant, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Constellation illuminates rare disease geneticsSiyuan Cheng, Qing Zhang, Xinchang Zheng, et al.
Neurology. Genetics|February 25, 2025
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic ParaplegiaLuca Schierbaum, Vicente Quiroz, Kathryn Yang, et al.
Neurology|March 6, 2025
Genotype-Phenotype Landscape of <i>NALCN</i> and <i>UNC80</i>-Related DisordersPaloma Parra-Díaz, Arnaud Monteil, Daniel Calame, et al.
Biorxiv : the Preprint Server for Biology|July 10, 2026
Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating VariantsIman Egab, Jacob Schmidt, Michael Cortázar, et al.
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