Next Generation Sequencing Competence Network

Next Generation Sequencing Competence Network

e.g. CCGA
(min 2 characters)

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One or more keywords matched the following items that are connected to Kunz, Wolfram
Item TypeName
Academic Article Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.
Academic Article The role of mitochondria in epileptogenesis.
Academic Article Genotypes and phenotypes of patients with Lafora disease living in Germany.
Academic Article Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Academic Article Novel KCNH1 Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of KCNH1-Associated Diseases.
Academic Article Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.
Academic Article Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Academic Article Mesial temporal lobe epilepsy associated with KCNT1 mutation.
Academic Article Analysis of shared heritability in common disorders of the brain.
Academic Article Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration.
Academic Article Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Academic Article Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP.
Concept Phenotype
Academic Article Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.
Academic Article Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.

Search Criteria

  • Phenotype