Xilma R. Ortiz‐González
0000-0002-1710-4696
Publication & Citation Trends
Publications
0 total
Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.
Cited by 0
Semantic Scholar
Patient‐Derived Variants Define Constraints for Ligand Binding at the PDZ Domain of CASK
Cited by 1
Semantic Scholar
Promoting Open Discussions of Scientific Failure within the Annual Society for Neuroscience Conference OA
Cited by 0
Semantic Scholar
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder
Cited by 0
Semantic Scholar
TBCK-deficiency leads to compartment-specific mRNA and lysosomal trafficking defects in patient-derived neurons OA
Cited by 1
Semantic Scholar
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(21)
Genomics and Rare Diseases
(14)
Mitochondrial Function and Pathology
(10)
Epilepsy research and treatment
(8)
Cellular transport and secretion
(8)
Affiliations
University of Minnesota
Children's Hospital of Philadelphia
Radboud University Nijmegen
University of Puerto Rico at Río Piedras
School of the Art Institute of Chicago