FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4285605941> ?p ?o ?g. }

• W4285605941 endingPage "104570" @default.
• W4285605941 startingPage "104570" @default.
• W4285605941 abstract "In past decades, the identification of genes involved in epileptic disorders has grown exponentially. The pace of gene identification in epileptic disorders began to accelerate in the late 2000s, driven by new technologies such as molecular cytogenetics and next-generation sequencing (NGS). These technologies have also been applied to genetic diagnostics, with different configurations, such as gene panels, whole-exome sequencing and whole-genome sequencing. The clinician must be aware that any technology has its limitations and complementary techniques must still be used to establish a diagnosis for specific diseases. In addition, increasing the amount of genetic information available in a larger patient sample also increases the need for rigorous interpretation steps, when taking into account the clinical, electroclinical, and when available, functional data. Local, multidisciplinary discussions have proven valuable in difficult diagnostic situations, especially in cases where precision medicine is being considered. They also serve to improve genetic counseling in complex situations. In this article, we will briefly review the genetic basis of rare and common epilepsies, the current strategies used for molecular diagnosis, including their limitations, and some pitfalls for data interpretation, in the context of etiological diagnosis and genetic counseling." @default.
• W4285605941 created "2022-07-16" @default.
• W4285605941 creator A5021205088 @default.
• W4285605941 creator A5040303505 @default.
• W4285605941 creator A5047709467 @default.
• W4285605941 creator A5049933907 @default.
• W4285605941 creator A5066298038 @default.
• W4285605941 creator A5086020350 @default.
• W4285605941 date "2022-09-01" @default.
• W4285605941 modified "2023-10-18" @default.
• W4285605941 title "Genetic causes of rare and common epilepsies: What should the epileptologist know?" @default.
• W4285605941 cites W1964320147 @default.
• W4285605941 cites W1975682351 @default.
• W4285605941 cites W1989194458 @default.
• W4285605941 cites W1995225600 @default.
• W4285605941 cites W1995658722 @default.
• W4285605941 cites W2003479128 @default.
• W4285605941 cites W2004807060 @default.
• W4285605941 cites W2022714591 @default.
• W4285605941 cites W2023235195 @default.
• W4285605941 cites W2023364584 @default.
• W4285605941 cites W2026358013 @default.
• W4285605941 cites W2032997387 @default.
• W4285605941 cites W2037174026 @default.
• W4285605941 cites W2051978340 @default.
• W4285605941 cites W2052981010 @default.
• W4285605941 cites W2061574765 @default.
• W4285605941 cites W2071335594 @default.
• W4285605941 cites W2073032316 @default.
• W4285605941 cites W2080019131 @default.
• W4285605941 cites W2088880225 @default.
• W4285605941 cites W2115558586 @default.
• W4285605941 cites W2117085932 @default.
• W4285605941 cites W2129439479 @default.
• W4285605941 cites W2131587128 @default.
• W4285605941 cites W2136941319 @default.
• W4285605941 cites W2156075822 @default.
• W4285605941 cites W2231968663 @default.
• W4285605941 cites W2235837601 @default.
• W4285605941 cites W2270303516 @default.
• W4285605941 cites W2302804942 @default.
• W4285605941 cites W2484239316 @default.
• W4285605941 cites W2528146340 @default.
• W4285605941 cites W2578052607 @default.
• W4285605941 cites W2588666460 @default.
• W4285605941 cites W2592509339 @default.
• W4285605941 cites W2765791048 @default.
• W4285605941 cites W2783266079 @default.
• W4285605941 cites W2790182135 @default.
• W4285605941 cites W2794029549 @default.
• W4285605941 cites W2809226260 @default.
• W4285605941 cites W2888066901 @default.
• W4285605941 cites W2904696555 @default.
• W4285605941 cites W2904891280 @default.
• W4285605941 cites W2923964094 @default.
• W4285605941 cites W2933768752 @default.
• W4285605941 cites W2948620521 @default.
• W4285605941 cites W2974156653 @default.
• W4285605941 cites W2980424458 @default.
• W4285605941 cites W2982458090 @default.
• W4285605941 cites W2982631241 @default.
• W4285605941 cites W2990011524 @default.
• W4285605941 cites W3000439708 @default.
• W4285605941 cites W3087029698 @default.
• W4285605941 cites W3095492156 @default.
• W4285605941 cites W3101261304 @default.
• W4285605941 cites W3107584143 @default.
• W4285605941 cites W4206962735 @default.
• W4285605941 doi "https://doi.org/10.1016/j.ejmg.2022.104570" @default.
• W4285605941 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35850153" @default.
• W4285605941 hasPublicationYear "2022" @default.
• W4285605941 type Work @default.
• W4285605941 citedByCount "4" @default.
• W4285605941 countsByYear W42856059412022 @default.
• W4285605941 countsByYear W42856059412023 @default.
• W4285605941 crossrefType "journal-article" @default.
• W4285605941 hasAuthorship W4285605941A5021205088 @default.
• W4285605941 hasAuthorship W4285605941A5040303505 @default.
• W4285605941 hasAuthorship W4285605941A5047709467 @default.
• W4285605941 hasAuthorship W4285605941A5049933907 @default.
• W4285605941 hasAuthorship W4285605941A5066298038 @default.
• W4285605941 hasAuthorship W4285605941A5086020350 @default.
• W4285605941 hasConcept C104317684 @default.
• W4285605941 hasConcept C10590036 @default.
• W4285605941 hasConcept C116834253 @default.
• W4285605941 hasConcept C141231307 @default.
• W4285605941 hasConcept C151730666 @default.
• W4285605941 hasConcept C16671776 @default.
• W4285605941 hasConcept C24432333 @default.
• W4285605941 hasConcept C2779343474 @default.
• W4285605941 hasConcept C2780673598 @default.
• W4285605941 hasConcept C41008148 @default.
• W4285605941 hasConcept C501734568 @default.
• W4285605941 hasConcept C54355233 @default.
• W4285605941 hasConcept C59822182 @default.
• W4285605941 hasConcept C60644358 @default.
• W4285605941 hasConcept C70721500 @default.
• W4285605941 hasConcept C71924100 @default.

• next