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1,435 results on '"Wolfram, S"'

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

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

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

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

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

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

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

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

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

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

168. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects

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

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

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

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

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

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

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

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

185. Testing association of rare genetic variants with resistance to three common antiseizure medications

186. Elongation differences between the sub-tendons of gastrocnemius medialis and lateralis during plantarflexion in different frontal plane position of the foot

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

196. Recombination of Human Mitochondrial DNA

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