Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051276384> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2051276384 endingPage "80" @default.
- W2051276384 startingPage "73" @default.
- W2051276384 abstract "The importance of the interaction between basic science and clinical practice has long been known but it has become even more evident in the past few decades with the impressive rate of development in the field of molecular genetics. This short article reviews molecular diagnosis of two different diseases for which scientific progress has immediately been translated into a dramatic improvement of the quality of medical care: the Fragile X Syndrome, paradigm of the new mutational mechanism of the unstable triplet repeats, and von Hippel-Lindau disease, a recent acquisition in the growing number of familial cancer syndromes." @default.
- W2051276384 created "2016-06-24" @default.
- W2051276384 creator A5043356864 @default.
- W2051276384 creator A5060977362 @default.
- W2051276384 creator A5062283112 @default.
- W2051276384 creator A5070676691 @default.
- W2051276384 creator A5075428678 @default.
- W2051276384 date "1999-02-01" @default.
- W2051276384 modified "2023-09-25" @default.
- W2051276384 title "Molecular diagnosis of inherited diseases" @default.
- W2051276384 cites W11250962 @default.
- W2051276384 cites W1483242733 @default.
- W2051276384 cites W1984130052 @default.
- W2051276384 cites W1988935612 @default.
- W2051276384 cites W1989126616 @default.
- W2051276384 cites W1994379239 @default.
- W2051276384 cites W2020843364 @default.
- W2051276384 cites W2068555261 @default.
- W2051276384 cites W2071139858 @default.
- W2051276384 cites W2077858999 @default.
- W2051276384 cites W2101300983 @default.
- W2051276384 cites W2103173315 @default.
- W2051276384 cites W2131637236 @default.
- W2051276384 cites W2165865627 @default.
- W2051276384 cites W2616568953 @default.
- W2051276384 doi "https://doi.org/10.1016/s0009-8981(98)00199-5" @default.
- W2051276384 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10090525" @default.
- W2051276384 hasPublicationYear "1999" @default.
- W2051276384 type Work @default.
- W2051276384 sameAs 2051276384 @default.
- W2051276384 citedByCount "1" @default.
- W2051276384 countsByYear W20512763842016 @default.
- W2051276384 crossrefType "journal-article" @default.
- W2051276384 hasAuthorship W2051276384A5043356864 @default.
- W2051276384 hasAuthorship W2051276384A5060977362 @default.
- W2051276384 hasAuthorship W2051276384A5062283112 @default.
- W2051276384 hasAuthorship W2051276384A5070676691 @default.
- W2051276384 hasAuthorship W2051276384A5075428678 @default.
- W2051276384 hasConcept C104317684 @default.
- W2051276384 hasConcept C111472728 @default.
- W2051276384 hasConcept C138885662 @default.
- W2051276384 hasConcept C142724271 @default.
- W2051276384 hasConcept C2779134260 @default.
- W2051276384 hasConcept C2779974597 @default.
- W2051276384 hasConcept C512399662 @default.
- W2051276384 hasConcept C54355233 @default.
- W2051276384 hasConcept C64474127 @default.
- W2051276384 hasConcept C71924100 @default.
- W2051276384 hasConcept C86803240 @default.
- W2051276384 hasConcept C89611455 @default.
- W2051276384 hasConceptScore W2051276384C104317684 @default.
- W2051276384 hasConceptScore W2051276384C111472728 @default.
- W2051276384 hasConceptScore W2051276384C138885662 @default.
- W2051276384 hasConceptScore W2051276384C142724271 @default.
- W2051276384 hasConceptScore W2051276384C2779134260 @default.
- W2051276384 hasConceptScore W2051276384C2779974597 @default.
- W2051276384 hasConceptScore W2051276384C512399662 @default.
- W2051276384 hasConceptScore W2051276384C54355233 @default.
- W2051276384 hasConceptScore W2051276384C64474127 @default.
- W2051276384 hasConceptScore W2051276384C71924100 @default.
- W2051276384 hasConceptScore W2051276384C86803240 @default.
- W2051276384 hasConceptScore W2051276384C89611455 @default.
- W2051276384 hasIssue "1-2" @default.
- W2051276384 hasLocation W20512763841 @default.
- W2051276384 hasLocation W20512763842 @default.
- W2051276384 hasOpenAccess W2051276384 @default.
- W2051276384 hasPrimaryLocation W20512763841 @default.
- W2051276384 hasRelatedWork W1828691184 @default.
- W2051276384 hasRelatedWork W1903732681 @default.
- W2051276384 hasRelatedWork W1991523530 @default.
- W2051276384 hasRelatedWork W2002128513 @default.
- W2051276384 hasRelatedWork W2020824267 @default.
- W2051276384 hasRelatedWork W2054265283 @default.
- W2051276384 hasRelatedWork W2057739827 @default.
- W2051276384 hasRelatedWork W2075354549 @default.
- W2051276384 hasRelatedWork W4245476552 @default.
- W2051276384 hasRelatedWork W2092874662 @default.
- W2051276384 hasVolume "280" @default.
- W2051276384 isParatext "false" @default.
- W2051276384 isRetracted "false" @default.
- W2051276384 magId "2051276384" @default.
- W2051276384 workType "article" @default.