S. Khateeb

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

O. Birk, B. Markus, I. Shelef, 2010, American journal of human genetics.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

Rachel Levy, Rivka Ofir, Ilan Shelef, 2006, American journal of human genetics.

Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.

R. Ofir, O. Birk, O. Barel, 2008, American journal of human genetics.

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

G. Narkis, O. Birk, B. Markus, 2014, European Journal of Human Genetics.