FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2317156619> ?p ?o ?g. }

• W2317156619 abstract "Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and daughter with congenital hypothyroidism caused by different forms of thyroid dysgenesis. The father had a severely hypoplastic thyroid gland in a normal location, whereas the daughter had an ectopic thyroid gland in a sublingual position. Her brother had a hypoplastic thyroid but was euthyroid. The involvement of the candidate gene, PAX8, as the cause of thyroid dysgenesis in this family was partially excluded by linkage analysis, and the possibility of a de novo mutation excluded by sequencing." @default.
• W2317156619 created "2016-06-24" @default.
• W2317156619 creator A5004704751 @default.
• W2317156619 creator A5016574831 @default.
• W2317156619 creator A5026057732 @default.
• W2317156619 creator A5038183050 @default.
• W2317156619 creator A5063065558 @default.
• W2317156619 date "2004-01-01" @default.
• W2317156619 modified "2023-10-14" @default.
• W2317156619 title "Analysis of the PAX8 Gene in Congenital Hypothyroidism Caused by Different Forms of Thyroid Dysgenesis in a Father and Daughter" @default.
• W2317156619 cites W1493582161 @default.
• W2317156619 cites W1545219498 @default.
• W2317156619 cites W1973238841 @default.
• W2317156619 cites W1977157996 @default.
• W2317156619 cites W1978336585 @default.
• W2317156619 cites W2000799000 @default.
• W2317156619 cites W2010966468 @default.
• W2317156619 cites W2025435728 @default.
• W2317156619 cites W2025748009 @default.
• W2317156619 cites W2028965874 @default.
• W2317156619 cites W2029415218 @default.
• W2317156619 cites W2038483841 @default.
• W2317156619 cites W2055628066 @default.
• W2317156619 cites W2058662750 @default.
• W2317156619 cites W2059281924 @default.
• W2317156619 cites W2083207896 @default.
• W2317156619 cites W2084422620 @default.
• W2317156619 cites W2098069596 @default.
• W2317156619 cites W2109036752 @default.
• W2317156619 cites W2119725954 @default.
• W2317156619 cites W2133023372 @default.
• W2317156619 cites W2137306870 @default.
• W2317156619 cites W2314621603 @default.
• W2317156619 cites W2315015544 @default.
• W2317156619 cites W4205744726 @default.
• W2317156619 cites W4229944828 @default.
• W2317156619 cites W4239636718 @default.
• W2317156619 cites W4241221219 @default.
• W2317156619 cites W4243375166 @default.
• W2317156619 cites W4243703753 @default.
• W2317156619 cites W4249192625 @default.
• W2317156619 cites W4250381387 @default.
• W2317156619 cites W4251929015 @default.
• W2317156619 cites W4255164449 @default.
• W2317156619 doi "https://doi.org/10.1515/jpem.2004.17.7.1021" @default.
• W2317156619 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15301052" @default.
• W2317156619 hasPublicationYear "2004" @default.
• W2317156619 type Work @default.
• W2317156619 sameAs 2317156619 @default.
• W2317156619 citedByCount "3" @default.
• W2317156619 countsByYear W23171566192016 @default.
• W2317156619 crossrefType "journal-article" @default.
• W2317156619 hasAuthorship W2317156619A5004704751 @default.
• W2317156619 hasAuthorship W2317156619A5016574831 @default.
• W2317156619 hasAuthorship W2317156619A5026057732 @default.
• W2317156619 hasAuthorship W2317156619A5038183050 @default.
• W2317156619 hasAuthorship W2317156619A5063065558 @default.
• W2317156619 hasConcept C104317684 @default.
• W2317156619 hasConcept C105702510 @default.
• W2317156619 hasConcept C124224327 @default.
• W2317156619 hasConcept C126322002 @default.
• W2317156619 hasConcept C134018914 @default.
• W2317156619 hasConcept C2777195454 @default.
• W2317156619 hasConcept C2779033419 @default.
• W2317156619 hasConcept C2779258352 @default.
• W2317156619 hasConcept C2779812711 @default.
• W2317156619 hasConcept C2908839706 @default.
• W2317156619 hasConcept C526584372 @default.
• W2317156619 hasConcept C54355233 @default.
• W2317156619 hasConcept C71924100 @default.
• W2317156619 hasConcept C78458016 @default.
• W2317156619 hasConcept C86339819 @default.
• W2317156619 hasConcept C86803240 @default.
• W2317156619 hasConceptScore W2317156619C104317684 @default.
• W2317156619 hasConceptScore W2317156619C105702510 @default.
• W2317156619 hasConceptScore W2317156619C124224327 @default.
• W2317156619 hasConceptScore W2317156619C126322002 @default.
• W2317156619 hasConceptScore W2317156619C134018914 @default.
• W2317156619 hasConceptScore W2317156619C2777195454 @default.
• W2317156619 hasConceptScore W2317156619C2779033419 @default.
• W2317156619 hasConceptScore W2317156619C2779258352 @default.
• W2317156619 hasConceptScore W2317156619C2779812711 @default.
• W2317156619 hasConceptScore W2317156619C2908839706 @default.
• W2317156619 hasConceptScore W2317156619C526584372 @default.
• W2317156619 hasConceptScore W2317156619C54355233 @default.
• W2317156619 hasConceptScore W2317156619C71924100 @default.
• W2317156619 hasConceptScore W2317156619C78458016 @default.
• W2317156619 hasConceptScore W2317156619C86339819 @default.
• W2317156619 hasConceptScore W2317156619C86803240 @default.
• W2317156619 hasIssue "7" @default.
• W2317156619 hasLocation W23171566191 @default.
• W2317156619 hasLocation W23171566192 @default.
• W2317156619 hasOpenAccess W2317156619 @default.
• W2317156619 hasPrimaryLocation W23171566191 @default.
• W2317156619 hasRelatedWork W1014328211 @default.
• W2317156619 hasRelatedWork W1545219498 @default.
• W2317156619 hasRelatedWork W1946010634 @default.
• W2317156619 hasRelatedWork W2011960454 @default.
• W2317156619 hasRelatedWork W2057292632 @default.
• W2317156619 hasRelatedWork W2059281924 @default.

• next