Sarenur Gökben

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Kaya Bilgüvar, Ali K. Ozturk, Angeliki Louvi et al. · Nature · 2010 · 490 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Maria Kousi, Eija Siintola, Lenka Dvořáková et al. · Brain · 2009 · 140 citations · Full text

Genetics, Cln7/mfsd8 Gene, Cln7/mfsd8 Mutations +16

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

Laura van Berge, Eline M. Hamilton, Tarja Linnankivi et al. · Brain · 2014 · 105 citations · Full text

Novel mutations consolidate <i>KCTD7</i> as a progressive myoclonus epilepsy gene

Maria Kousi, Verneri Anttila, Angela Schulz et al. · Journal of Medical Genetics · 2012 · 78 citations · Full text

Value of biochemical markers for outcome in term infants with asphyxia

Hasan Tekgül, Mehmet Yalaz, Necil Kütükçüler et al. · Pediatric Neurology · 2004 · 70 citations

Biochemical Markers, Neonatology, Developmental Toxicology +7