N. Kempf

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

H. Dollfus, N. Calmels, D. Astruc, 2020, European journal of medical genetics.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

B. Gener, C. Depienne, S. Julia, 2016, Orphanet Journal of Rare Diseases.

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

N. Drouot, A. Durr, M. Koenig, 2013, Orphanet Journal of Rare Diseases.