van Binsbergen, Ellen

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

Otsuji, S., Nishio, Y., Tsujita, M., Rio, M., Huber, C., Antón-Plágaro, C., Mizuno, S., Kawano, Y., Miyatake, S., Simon, M., et al. (2023) · Journal of Medical Genetics

Cellular transport and secretionGenomics and Rare Diseases

Cited by 19

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy

Kato, K., Nishio, Y., McMillan, K. J., Al-Maraghi, A., Kroes, H. Y., Abdel-Hamid, M. S., Jones, E., Shaw, S., Yoshida, A., Otsuji, S., et al. (2025) · Science Translational Medicine

Cellular transport and secretionGenomics and Rare Diseases

Cited by 7