000 | 03072 a2200997 4500 | ||
---|---|---|---|
005 | 20250517183257.0 | ||
264 | 0 | _c20190910 | |
008 | 201909s 0 0 eng d | ||
022 | _a1468-6244 | ||
024 | 7 |
_a10.1136/jmedgenet-2017-104946 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aReijnders, Margot R F | |
245 | 0 | 0 |
_aPURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. _h[electronic resource] |
260 |
_bJournal of medical genetics _c02 2018 |
||
300 |
_a104-113 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
650 | 0 | 4 |
_aDNA-Binding Proteins _xchemistry |
650 | 0 | 4 |
_aDrosophila Proteins _xchemistry |
650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
650 | 0 | 4 |
_aFace _xabnormalities |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant, Newborn |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 |
_aMuscle Hypotonia _xetiology |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPregnancy |
650 | 0 | 4 | _aStructural Homology, Protein |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aTranscription Factors _xchemistry |
700 | 1 | _aJanowski, Robert | |
700 | 1 | _aAlvi, Mohsan | |
700 | 1 | _aSelf, Jay E | |
700 | 1 | _avan Essen, Ton J | |
700 | 1 | _aVreeburg, Maaike | |
700 | 1 | _aRouhl, Rob P W | |
700 | 1 | _aStevens, Servi J C | |
700 | 1 | _aStegmann, Alexander P A | |
700 | 1 | _aSchieving, Jolanda | |
700 | 1 | _aPfundt, Rolph | |
700 | 1 | _avan Dijk, Katinke | |
700 | 1 | _aSmeets, Eric | |
700 | 1 | _aStumpel, Connie T R M | |
700 | 1 | _aBok, Levinus A | |
700 | 1 | _aCobben, Jan Maarten | |
700 | 1 | _aEngelen, Marc | |
700 | 1 | _aMansour, Sahar | |
700 | 1 | _aWhiteford, Margo | |
700 | 1 | _aChandler, Kate E | |
700 | 1 | _aDouzgou, Sofia | |
700 | 1 | _aCooper, Nicola S | |
700 | 1 | _aTan, Ene-Choo | |
700 | 1 | _aFoo, Roger | |
700 | 1 | _aLai, Angeline H M | |
700 | 1 | _aRankin, Julia | |
700 | 1 | _aGreen, Andrew | |
700 | 1 | _aLönnqvist, Tuula | |
700 | 1 | _aIsohanni, Pirjo | |
700 | 1 | _aWilliams, Shelley | |
700 | 1 | _aRuhoy, Ilene | |
700 | 1 | _aCarvalho, Karen S | |
700 | 1 | _aDowling, James J | |
700 | 1 | _aLev, Dorit L | |
700 | 1 | _aSterbova, Katalin | |
700 | 1 | _aLassuthova, Petra | |
700 | 1 | _aNeupauerová, Jana | |
700 | 1 | _aWaugh, Jeff L | |
700 | 1 | _aKeros, Sotirios | |
700 | 1 | _aClayton-Smith, Jill | |
700 | 1 | _aSmithson, Sarah F | |
700 | 1 | _aBrunner, Han G | |
700 | 1 | _avan Hoeckel, Ceciel | |
700 | 1 | _aAnderson, Mel | |
700 | 1 | _aClowes, Virginia E | |
700 | 1 | _aSiu, Victoria Mok | |
700 | 1 | _aDdd Study, The | |
700 | 1 | _aSelber, Paulo | |
700 | 1 | _aLeventer, Richard J | |
700 | 1 | _aNellaker, Christoffer | |
700 | 1 | _aNiessing, Dierk | |
700 | 1 | _aHunt, David | |
700 | 1 | _aBaralle, Diana | |
773 | 0 |
_tJournal of medical genetics _gvol. 55 _gno. 2 _gp. 104-113 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2017-104946 _zAvailable from publisher's website |
999 |
_c27748747 _d27748747 |