Associated Papers
An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants.
Sharkia R et al.
Genes, 2024
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Sharkia R et al.
Genes, 2023
The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan.
Ando M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genetic Testing in Children with Epilepsy: Report of a Single-Center Experience.
Lee S et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021
PTRH2: an adhesion regulated molecular switch at the nexus of life, death, and differentiation.
Corpuz AD et al.
Cell Death Discovery, 2020
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.
Le C et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2019
Select a paper to view details