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Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Genome Medicine|February 26, 2026
A comprehensive framework for the interpretation of TTN missense variantsMaria Francesca Di Feo, Martin Rees, Victoria Lillback, et al.
Allergy|July 12, 2024
Forecasting daily total pollen concentrations on a global scaleLászló Makra, Luca Coviello, Andrea Gobbi, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathiesMridul Johari, Chiara Folland, Yoshihiko Saito, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
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