Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.
Hu TM et al.
Journal of Personalized Medicine, 2022
HROP68: A rare case of medullary pancreatic cancer-characterization and chemosensitivity of the first patient-derived cell line.
von den Driesch J et al.
Frontiers in Oncology, 2022
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia.
Córdoba M et al.
Clinical Genetics, 2015
Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.
Rodríguez-Quiroga SA et al.
Genetics Research, 2015
[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
Rodríguez-Quiroga SA et al.
Medicina, 2013
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