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1,535 results on '"Wolfram S"'

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151. Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier

153. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

155. Open Discussion on A Computable Universe

156. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

157. SONOGRAPHY OF THE MEDIAN NERVE IN CMT1A, CMT2A, CMTX, AND HNPP

158. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

159. Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

162. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With Pathogenic Variants.

165. Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

167. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

169. Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

174. Cytosolic, but not matrix, calcium is essential for adjustment of mitochondrial pyruvate supply

175. Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

176. Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice

177. Energy and greenhouse gases life cycle assessment of electric and hydrogen buses: A real-world case study in Bolzano Italy

178. Effect of Whole-body Vibration frequency on muscle tensile state during graded plantar flexor isometric contractions

179. Sustained Suppression of Gorlin Syndrome-Associated Basal Cell Carcinomas with Vismodegib or Sonidegib: A Case Series

180. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

181. Analysis of shared heritability in common disorders of the brain

182. Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

185. Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy

186. Peripheral nerve atrophy together with higher cerebrospinal fluid progranulin indicate axonal damage in amyotrophic lateral sclerosis

187. Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

190. Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.

194. Transcriptome-wide Profiling of Cerebral Cavernous Malformations Patients Reveal Important Long noncoding RNA molecular signatures

195. Genomic and clinical predictors of lacosamide response in refractory epilepsies

197. Quasi-Mendelian Paternal Inheritance of mitochondrial DNA: A notorious artifact, or anticipated mtDNA behavior?

199. Risk of mitochondrial deletions is affected by the global secondary structure of the human mitochondrial genome

200. Mammalian mitochondrial mutational spectrum as a hallmark of cellular and organismal aging

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