000 | 02113 a2200649 4500 | ||
---|---|---|---|
005 | 20250516180652.0 | ||
264 | 0 | _c20140808 | |
008 | 201408s 0 0 eng d | ||
022 | _a1468-6244 | ||
024 | 7 |
_a10.1136/jmedgenet-2013-101937 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aLindstrand, Anna | |
245 | 0 | 0 |
_aDifferent mutations in PDE4D associated with developmental disorders with mirror phenotypes. _h[electronic resource] |
260 |
_bJournal of medical genetics _cJan 2014 |
||
300 |
_a45-54 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAnimals |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aCyclic Nucleotide Phosphodiesterases, Type 4 _xgenetics |
650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
650 | 0 | 4 |
_aDysostoses _xdiagnosis |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 | _aGene Expression |
650 | 0 | 4 | _aGene Order |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aPoint Mutation |
650 | 0 | 4 |
_aZebrafish _xgenetics |
700 | 1 | _aGrigelioniene, Giedre | |
700 | 1 | _aNilsson, Daniel | |
700 | 1 | _aPettersson, Maria | |
700 | 1 | _aHofmeister, Wolfgang | |
700 | 1 | _aAnderlid, Britt-Marie | |
700 | 1 | _aKant, Sarina G | |
700 | 1 | _aRuivenkamp, Claudia A L | |
700 | 1 | _aGustavsson, Peter | |
700 | 1 | _aValta, Helena | |
700 | 1 | _aGeiberger, Stefan | |
700 | 1 | _aTopa, Alexandra | |
700 | 1 | _aLagerstedt-Robinson, Kristina | |
700 | 1 | _aTaylan, Fulya | |
700 | 1 | _aWincent, Josephine | |
700 | 1 | _aLaurell, Tobias | |
700 | 1 | _aPekkinen, Minna | |
700 | 1 | _aNordenskjöld, Magnus | |
700 | 1 | _aMäkitie, Outi | |
700 | 1 | _aNordgren, Ann | |
773 | 0 |
_tJournal of medical genetics _gvol. 51 _gno. 1 _gp. 45-54 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2013-101937 _zAvailable from publisher's website |
999 |
_c23242771 _d23242771 |