Sarah Chaim

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.

A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

P. Hanawalt, G. Spivak, L. Kalfon, 2012, Environmental and molecular mutagenesis.

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

H. Mandel, D. Goldsher, R. Bergman, 2017, EMBO molecular medicine.