Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_2
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2023
Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ.
Batjargal K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
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