Al-Humadi AW et al.
Journal of Clinical Medicine, 2023
Waldman M et al.
Molecular Genetics and Metabolism, 2018
Han JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Brofferio A et al.
Molecular Genetics and Metabolism, 2017
Citton V et al.
Journal of Neuroradiology = Journal De Neuroradiologie, 2016
Marshall JD et al.
Human Mutation, 2007