Jozef Gécz
South Australian Health and Medical Research Institute
225 papers found
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Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
Download from www.ncbi.nlm.nih.govX-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Download from www.nature.comOligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Download from doi.orgA novel locus for X-linked congenital cataract on Xq24
Download from www.ncbi.nlm.nih.govRefined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes
Download from www.ncbi.nlm.nih.govEpilepsy and mental retardation limited to females: an under-recognized disorder
Download from academic.oup.comTwo novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients
Download from www.nature.comMutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly
Download from www.ncbi.nlm.nih.govThe original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.