| 000 | 02529 a2200805 4500 | ||
|---|---|---|---|
| 005 | 20250515161219.0 | ||
| 264 | 0 | _c20090706 | |
| 008 | 200907s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20935 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _ade Pontual, Loïc | |
| 245 | 0 | 0 |
_aMutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. _h[electronic resource] |
| 260 |
_bHuman mutation _cApr 2009 |
||
| 300 |
_a669-76 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aBasic Helix-Loop-Helix Leucine Zipper Transcription Factors |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xchemistry |
| 650 | 0 | 4 | _aDimerization |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 | _aGene Expression Regulation, Developmental |
| 650 | 0 | 4 | _aHeLa Cells |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHyperventilation _xpathology |
| 650 | 0 | 4 | _aImmunohistochemistry |
| 650 | 0 | 4 | _aIn Situ Hybridization |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xpathology |
| 650 | 0 | 4 |
_aLuciferases _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTranscription Factor 4 |
| 650 | 0 | 4 |
_aTranscription Factors _xchemistry |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aMathieu, Yves | |
| 700 | 1 | _aGolzio, Christelle | |
| 700 | 1 | _aRio, Marlène | |
| 700 | 1 | _aMalan, Valérie | |
| 700 | 1 | _aBoddaert, Nathalie | |
| 700 | 1 | _aSoufflet, Christine | |
| 700 | 1 | _aPicard, Capucine | |
| 700 | 1 | _aDurandy, Anne | |
| 700 | 1 | _aDobbie, Angus | |
| 700 | 1 | _aHeron, Delphine | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aMotte, Jacques | |
| 700 | 1 | _aNewburry-Ecob, Ruth | |
| 700 | 1 | _aPasquier, Laurent | |
| 700 | 1 | _aTardieu, Marc | |
| 700 | 1 | _aViot, Géraldine | |
| 700 | 1 | _aJaubert, Francis | |
| 700 | 1 | _aMunnich, Arnold | |
| 700 | 1 | _aColleaux, Laurence | |
| 700 | 1 | _aVekemans, Michel | |
| 700 | 1 | _aEtchevers, Heather | |
| 700 | 1 | _aLyonnet, Stanislas | |
| 700 | 1 | _aAmiel, Jeanne | |
| 773 | 0 |
_tHuman mutation _gvol. 30 _gno. 4 _gp. 669-76 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20935 _zAvailable from publisher's website |
| 999 |
_c18677540 _d18677540 |
||