Owusu-Ansah M et al.
International Journal of Molecular Sciences, 2023
Häberle J et al.
Human Mutation, 2011
Martínez AI et al.
Molecular Genetics and Metabolism, 2010
Kurokawa K et al.
Journal of Human Genetics, 2007
Aoshima T et al.
Prenatal Diagnosis, 2001