FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2943293882> ?p ?o ?g. }

• W2943293882 abstract "The synchronized advent of high-throughput next-generation sequencing technology and knowledge of the human genome has rendered exponential contributions to our understanding of the pathophysiology of glomerular kidney diseases. A genetic diagnosis can now be made or confirmed in about two-thirds of the suspected inherited glomerular diseases. Next-generation sequencing is adept at identifying single nucleotide variations and small insertions or deletions that constitute majority of the disease-causing mutations. Description of the complete mutation spectrum in syndromic glomerulopathies may require the use of both sequencing and cytogenetic methods to detect large structural DNA variation in addition to single nucleotide changes. The enthusiastic application of genetic and genomic knowledge to inherited glomerular diseases has uncovered anticipated and unforeseen challenges mainly related to the biological interpretation of variants of uncertain significance and the limited benefit on clinical management for the individual patient when a diagnosis is obtained. To attain the ultimate goal of transforming clinical decision-making based on accurate genetic diagnosis using genomic information, these challenges need to be addressed. Till then, the glory of genomic medicine stands the test of time in this gilded age of genomic advancements." @default.
• W2943293882 created "2019-05-09" @default.
• W2943293882 creator A5009586977 @default.
• W2943293882 creator A5035061312 @default.
• W2943293882 creator A5048610534 @default.
• W2943293882 date "2019-05-03" @default.
• W2943293882 modified "2023-09-24" @default.
• W2943293882 title "Inherited glomerular diseases in the gilded age of genomic advancements" @default.
• W2943293882 cites W1822665054 @default.
• W2943293882 cites W1964324684 @default.
• W2943293882 cites W1966738746 @default.
• W2943293882 cites W1971322148 @default.
• W2943293882 cites W1971359363 @default.
• W2943293882 cites W1991897687 @default.
• W2943293882 cites W1997599954 @default.
• W2943293882 cites W2006322559 @default.
• W2943293882 cites W2023044448 @default.
• W2943293882 cites W2023371427 @default.
• W2943293882 cites W2024751825 @default.
• W2943293882 cites W2025349319 @default.
• W2943293882 cites W2030140354 @default.
• W2943293882 cites W2043680545 @default.
• W2943293882 cites W2051978340 @default.
• W2943293882 cites W2065013649 @default.
• W2943293882 cites W2090506391 @default.
• W2943293882 cites W2124641083 @default.
• W2943293882 cites W2152745352 @default.
• W2943293882 cites W2162318066 @default.
• W2943293882 cites W2520926154 @default.
• W2943293882 cites W2542213537 @default.
• W2943293882 cites W2550779750 @default.
• W2943293882 cites W2560641002 @default.
• W2943293882 cites W2593771998 @default.
• W2943293882 cites W2767007189 @default.
• W2943293882 cites W2792611754 @default.
• W2943293882 cites W2802426131 @default.
• W2943293882 cites W2803799714 @default.
• W2943293882 cites W2803949728 @default.
• W2943293882 cites W2827559089 @default.
• W2943293882 cites W2894742376 @default.
• W2943293882 cites W3151813553 @default.
• W2943293882 doi "https://doi.org/10.1007/s00467-019-04266-y" @default.
• W2943293882 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7184048" @default.
• W2943293882 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31049720" @default.
• W2943293882 hasPublicationYear "2019" @default.
• W2943293882 type Work @default.
• W2943293882 sameAs 2943293882 @default.
• W2943293882 citedByCount "1" @default.
• W2943293882 countsByYear W29432938822021 @default.
• W2943293882 crossrefType "journal-article" @default.
• W2943293882 hasAuthorship W2943293882A5009586977 @default.
• W2943293882 hasAuthorship W2943293882A5035061312 @default.
• W2943293882 hasAuthorship W2943293882A5048610534 @default.
• W2943293882 hasBestOaLocation W29432938821 @default.
• W2943293882 hasConcept C104317684 @default.
• W2943293882 hasConcept C141231307 @default.
• W2943293882 hasConcept C189206191 @default.
• W2943293882 hasConcept C197077220 @default.
• W2943293882 hasConcept C501734568 @default.
• W2943293882 hasConcept C51679486 @default.
• W2943293882 hasConcept C54355233 @default.
• W2943293882 hasConcept C60644358 @default.
• W2943293882 hasConcept C70721500 @default.
• W2943293882 hasConcept C71924100 @default.
• W2943293882 hasConcept C86803240 @default.
• W2943293882 hasConceptScore W2943293882C104317684 @default.
• W2943293882 hasConceptScore W2943293882C141231307 @default.
• W2943293882 hasConceptScore W2943293882C189206191 @default.
• W2943293882 hasConceptScore W2943293882C197077220 @default.
• W2943293882 hasConceptScore W2943293882C501734568 @default.
• W2943293882 hasConceptScore W2943293882C51679486 @default.
• W2943293882 hasConceptScore W2943293882C54355233 @default.
• W2943293882 hasConceptScore W2943293882C60644358 @default.
• W2943293882 hasConceptScore W2943293882C70721500 @default.
• W2943293882 hasConceptScore W2943293882C71924100 @default.
• W2943293882 hasConceptScore W2943293882C86803240 @default.
• W2943293882 hasFunder F4320332161 @default.
• W2943293882 hasFunder F4320337357 @default.
• W2943293882 hasLocation W29432938821 @default.
• W2943293882 hasLocation W29432938822 @default.
• W2943293882 hasLocation W29432938823 @default.
• W2943293882 hasOpenAccess W2943293882 @default.
• W2943293882 hasPrimaryLocation W29432938821 @default.
• W2943293882 hasRelatedWork W10837920 @default.
• W2943293882 hasRelatedWork W130237814 @default.
• W2943293882 hasRelatedWork W1718214277 @default.
• W2943293882 hasRelatedWork W1853880955 @default.
• W2943293882 hasRelatedWork W2020845231 @default.
• W2943293882 hasRelatedWork W2052914120 @default.
• W2943293882 hasRelatedWork W2118194624 @default.
• W2943293882 hasRelatedWork W2126313782 @default.
• W2943293882 hasRelatedWork W2149776594 @default.
• W2943293882 hasRelatedWork W2461833386 @default.
• W2943293882 hasRelatedWork W2606054669 @default.
• W2943293882 hasRelatedWork W2606173297 @default.
• W2943293882 hasRelatedWork W2894247673 @default.
• W2943293882 hasRelatedWork W2900219643 @default.
• W2943293882 hasRelatedWork W2949885556 @default.
• W2943293882 hasRelatedWork W3008078474 @default.
• W2943293882 hasRelatedWork W3024198590 @default.

• next