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Neuromuscular Disorders : NMD|April 26, 2020
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patientsMagdalena Mroczek, Hacer Durmus, Sunita Bijarnia-Mahay, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 28, 2026
The Evidence Aggregator: AI reasoning applied to rare disease diagnosticsHope Twede, Lynn Pais, Samantha Bryen, et al.Journal of the Peripheral Nervous System : JPNS|June 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicingBianca R Grosz, Jevin M Parmar, Melina Ellis, et al.Acta Neuropathologica|April 27, 2026
A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3Michaela Yuen, Katharine Zhang, Rhett G Marchant, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Pageof 1