Adnan Yüksel

Akademik Profiller

1. 1
   ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of MyopathyAnnals of Neurology
   2020
2. 2
   New mutations in KCNT2 gene causing early infantile epileptic encephalopathy type 57: Case study and literature reviewActa Biochimica Polonica
   2020
3. 3
   The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase DeficiencyJournal of Molecular Neuroscience
   2020
4. 4
   New Genetic Approaches for Early Diagnosis and Treatment of Autism Spectrum DisordersReview Journal of Autism and Developmental Disorders
   2019
5. 5
   Characterization of greater middle eastern genetic variation for enhanced disease gene discoveryNature Genetics
   2016
6. 6
   Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndromeGene
   2016
7. 7
   Erratum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (Nat. Genet. (2015) 47: (73-77))Nature Genetics
   2015
8. 8
   Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic DiseaseNeuron
   2015
9. 9
   Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyNature Genetics
   2015
10. 10
    Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesisHuman Molecular Genetics
    2015

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