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