Simon, Marleen

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

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Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin

van den Bogaard, E. H. J., van Geel, M., van Vlijmen-Willems, I. M. J. J., Jansen, P. A. M., Peppelman, M., van Erp, P. E. J., Atalay, S., Venselaar, H., Simon, M. E. H., Joosten, M., et al. (2019) · Genetics in Medicine

Hair Growth and DisordersGenetic and rare skin diseases.

Cited by 18