D. David

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

A. Munnich, S. Lyonnet, P. Caron, 1996, The Journal of clinical endocrinology and metabolism.

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

E. Levtchenko, R. Gijsbers, N. Soliman, 2018, Nephron.

Urine-Derived Kidney Progenitor Cells in Cystinosis

E. Levtchenko, R. Gijsbers, M. Janssen, 2022, Cells.

Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis.

M. Dean, F. Kaskel, L. A. Smolin, 1991, American journal of medical genetics.

New contribution on the LRRK2 G2019S mutation associated to Parkinson’s disease: age estimation of a common founder event of old age in Moroccan Berbers

G. Lucotte, D. David, N. Change, 2012 .