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Gene|January 17, 2017
X-linked elliptocytosis with impaired growth is related to mutated AMMECR1Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, et al.American Journal of Human Genetics|July 6, 2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneYu Sun, Rowida Almomani, Emmelien Aten, et al.Journal of Medical Genetics|April 16, 2011
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGNGal Maydan, Iris Noyman, Adi Har-Zahav, et al.Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.Science (New York, N.Y.)|March 27, 2004
G protein-coupled receptor-dependent development of human frontal cortexXianhua Piao, R Sean Hill, Adria Bodell, et al.Human Mutation|December 14, 2017
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathyJamie A Abbott, Rebecca Meyer-Schuman, Vincenzo Lupo, et al.Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.Annals of Neurology|March 3, 2017
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndromeVincenzo Salpietro, Weichun Lin, Andrea Delle Vedove, et al.American Journal of Human Genetics|January 10, 2012
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1Lina Basel-Vanagaite, Noam Zevit, Adi Har Zahav, et al.American Journal of Human Genetics|August 13, 2013
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumLina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, et al.Pageof 8