Uluç Yiş
Dokuz Eylül University(TR)
Publications by Year
Research Areas
Epilepsy research and treatment, Mitochondrial Function and Pathology, Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders
Most-Cited Works
- → De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome(2013)220 cited
- → Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy(2016)197 cited
- → Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies(2010)129 cited
- → Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation(2011)105 cited
- → Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes(2017)103 cited
- → Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome(2018)86 cited
- → Mycoplasma pneumoniae: nervous system complications in childhood and review of the literature(2008)80 cited
- → Hyperoxic exposure leads to cell death in the developing brain(2008)74 cited
- → Metoclopramide induced dystonia in children: two case reports(2005)71 cited
- → Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation(2010)64 cited