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The genetics of epilepsy
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …
ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE task force on nosology and definitions
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …
Epilepsies described the “genetic generalized epilepsies”(GGEs), which contained the …
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies
has been updated to reflect our gain in understanding of the epilepsies and their underlying …
has been updated to reflect our gain in understanding of the epilepsies and their underlying …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …
Nuclear RNA-seq of single neurons reveals molecular signatures of activation
Single-cell sequencing methods have emerged as powerful tools for identification of
heterogeneous cell types within defined brain regions. Application of single-cell techniques …
heterogeneous cell types within defined brain regions. Application of single-cell techniques …
Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
A copy number variation morbidity map of developmental delay
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy,
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with …
A de novo convergence of autism genetics and molecular neuroscience
Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …
disorders with large genetic components, but identification of pathogenic genes has …