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Journal of Medical Genetics|November 8, 2015
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCNYonatan Perez, Rotem Kadir, Michael Volodarsky, et al.
Human Mutation|January 15, 2013
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfectaMichael Volodarsky, Barak Markus, Idan Cohen, et al.
American Journal of Human Genetics|April 29, 2008
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQOrtal Barel, Zamir Shorer, Hagit Flusser, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Phenotypic variability and mutation hotspot in COX15-related Leigh syndromeDaniel Halperin, Max Drabkin, Ohad Wormser, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutationYonatan Perez, Libe Gradstein, Hagit Flusser, et al.
Scientific Reports|May 24, 2019
Quantifying the social symptoms of autism using motion captureIan Budman, Gal Meiri, Michal Ilan, et al.
Autism : the International Journal of Research and Practice|October 8, 2021
Early diagnosis of autism in the community is associated with marked improvement in social symptoms within 1-2 yearsNitzan Gabbay-Dizdar, Michal Ilan, Gal Meiri, et al.
American Journal of Medical Genetics. Part A|November 24, 2004
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)Tamar Harel, Ronen Rabinowitz, Netta Hendler, et al.
Molecular Autism|April 4, 2018
Sleep disturbances are associated with specific sensory sensitivities in children with autismOrna Tzischinsky, Gal Meiri, Liora Manelis, et al.
American Journal of Human Genetics|October 13, 2006
PLA2G6 mutation underlies infantile neuroaxonal dystrophyShareef Khateeb, Hagit Flusser, Rivka Ofir, et al.
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