Associated Papers
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.
Gonzalez A et al.
Structure (london, England : 1993), 2023
Defective recognition of a nonclassical nuclear localization signal in neurodevelopmental disorders.
Matsuura Y
Structure (london, England : 1993), 2023
A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A et al.
The Journal of Clinical Investigation, 2023
A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 is linked to neurodevelopmental disorders.
Gonzalez A et al.
Biorxiv : the Preprint Server for Biology, 2023
Cross-sectional, quantitative analysis of motor function in females with HNRNPH2-related disorder.
Salazar R et al.
Research in Developmental Disabilities, 2021
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental Disorder.
Bain JM et al.
Neurology. Genetics, 2021
The HNRNPF/H RNA binding proteins and disease.
Brownmiller T et al.
Wiley Interdisciplinary Reviews. Rna, 0
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