Results 211 to 220 of about 122,769 (286)

Loss-of-Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia. [PDF]

open access: yesMov Disord
Zhu R   +17 more
europepmc   +1 more source

Differential chromatin accessibility response to retinoic acid in neuroblastoma with ATRX in-frame-deletions versus ATRX loss-of-function. [PDF]

open access: yesNeoplasia
Lorenzi F   +13 more
europepmc   +1 more source

Hypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation. [PDF]

open access: yesEuropace
Frosio A   +20 more
europepmc   +1 more source

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