Kroes, Hester Y.

High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

Collin, R. W. J., van den Born, L. I., Klevering, B. J., de Castro-Miró, M., Littink, K. W., Arimadyo, K., Azam, M., Yazar, V., Zonneveld, M. N., Paun, C. C., et al. (2011) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersGenomics and Rare Diseases

Cited by 79

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

Van Damme, T., Colige, A., Syx, D., Giunta, C., Lindert, U., Rohrbach, M., Aryani, O., Alanay, Y., Simsek-Kiper, P. Ö., Kroes, H. Y., et al. (2016) · Genetics in Medicine

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

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