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Pediatric Neurology|October 3, 2013
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2Shlomit Hellman-Aharony, Pola Smirin-Yosef, Ayelet Halevy, et al.Journal of Perinatal Medicine|September 16, 2017
Cytogenetic analysis in fetuses with late onset abnormal sonographic findingsRon Bardin, Eran Hadar, Lylach Haizler-Cohen, et al.Harefuah|May 29, 2017
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE]Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, et al.American Journal of Human Genetics|February 3, 2007
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptaseLina Basel-Vanagaite, Revital Attia, Akemi Ishida-Yamamoto, et al.Human Genetics|May 1, 2014
Homozygous truncating PTPRF mutation causes atheliaGuntram Borck, Liat de Vries, Hsin-Jung Wu, et al.Human Mutation|May 20, 2003
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancyLieve Claes, Berten Ceulemans, Dominique Audenaert, et al.Annals of Neurology|May 6, 2003
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard S Chang, Xianhua Piao, Adria Bodell, et al.Annals of Neurology|June 21, 2006
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosisLina Basel-Vanagaite, Liora Muncher, Rachel Straussberg, et al.Human Molecular Genetics|December 23, 2017
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosaMonika Weisz Hubshman, Sanne Broekman, Erwin van Wijk, et al.Brain & Development|May 29, 2004
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalusVolney L Sheen, Lina Basel-Vanagaite, Jean R Goodman, et al.Pageof 8