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EMBO Molecular Medicine|February 16, 2022
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORASJulia Zinngrebe, Barbara Moepps, Thomas Monecke, et al.Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.Journal of Medical Genetics|November 4, 2017
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureMargot R F Reijnders, Robert Janowski, Mohsan Alvi, et al.Pageof 8