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Clinical Genetics|August 1, 2023
Human phenotype caused by biallelic KDM4B frameshift variantSanami Takada, Sebastián Silva, Ivonne Zamorano, et al.
Revista Medica De Chile|April 23, 2026
[Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile]Jorge A Bevilacqua, José Manuel Matamala, Ivonne Zamorano, et al.
Current Research in Neurobiology|June 12, 2026
A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variantDaniela Regonesi Polanco, Carlos Jaque Almendras, Marcela Lagos Lucero, et al.
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