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American Journal of Human Genetics|October 13, 2006
PLA2G6 mutation underlies infantile neuroaxonal dystrophyShareef Khateeb, Hagit Flusser, Rivka Ofir, et al.
American Journal of Human Genetics|August 6, 2008
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9Ortal Barel, Stavit A Shalev, Rivka Ofir, et al.
European Journal of Human Genetics : EJHG|November 13, 2014
A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4ADina Fine, Hagit Flusser, Barak Markus, et al.
American Journal of Human Genetics|November 25, 2010
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutationMiora Feinstein, Barak Markus, Iris Noyman, et al.
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