| 000 | 02810 a2200901 4500 | ||
|---|---|---|---|
| 005 | 20250517202246.0 | ||
| 264 | 0 | _c20190916 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2017-104939 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLefebvre, Mathilde | |
| 245 | 0 | 0 |
_aDiagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2018 |
||
| 300 |
_a422-429 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBasic Helix-Loop-Helix Transcription Factors _xgenetics |
| 650 | 0 | 4 |
_aBone Diseases, Developmental _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGlycosyltransferases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSpine _xmetabolism |
| 650 | 0 | 4 |
_aT-Box Domain Proteins _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aDieux-Coeslier, Anne | |
| 700 | 1 | _aBaujat, Geneviève | |
| 700 | 1 | _aSchaefer, Elise | |
| 700 | 1 | _aJudith, Saint-Onge | |
| 700 | 1 | _aBazin, Anne | |
| 700 | 1 | _aPinson, Lucile | |
| 700 | 1 | _aAttie-Bitach, Tania | |
| 700 | 1 | _aBaumann, Clarisse | |
| 700 | 1 | _aFradin, Melanie | |
| 700 | 1 | _aPierquin, Genevieve | |
| 700 | 1 | _aJulia, Sophie | |
| 700 | 1 | _aQuélin, Chloé | |
| 700 | 1 | _aDoray, Bérénice | |
| 700 | 1 | _aBerg, Sylvie | |
| 700 | 1 | _aVincent-Delorme, Catherine | |
| 700 | 1 | _aLambert, Laetitia | |
| 700 | 1 | _aBachmann, Nadine | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aLaurent, Nicole | |
| 700 | 1 | _aJoelle, Roume | |
| 700 | 1 | _aBlanchet, Patricia | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aKervran, Dominique | |
| 700 | 1 | _aLeporrier, Nathalie | |
| 700 | 1 | _aAbel, Carine | |
| 700 | 1 | _aSegers, Karine | |
| 700 | 1 | _aGuiliano, Fabienne | |
| 700 | 1 | _aGinglinger-Fabre, Emmanuelle | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aGoldenberg, Alice | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 700 | 1 | _aFrancannet, Christine | |
| 700 | 1 | _aDemeer, Benedicte | |
| 700 | 1 | _aDuffourd, Yannis | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aVerloes, Alain | |
| 700 | 1 | _aCormier-Daire, Valerie | |
| 700 | 1 | _aRiviere, Jean Baptiste | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aThevenon, Julien | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 55 _gno. 6 _gp. 422-429 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2017-104939 _zAvailable from publisher's website |
| 999 |
_c28101627 _d28101627 |
||