| 000 | 02857 a2200913 4500 | ||
|---|---|---|---|
| 005 | 20250516042155.0 | ||
| 264 | 0 | _c20111121 | |
| 008 | 201111s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/1750-1172-6-38 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMicale, Lucia | |
| 245 | 0 | 0 |
_aMutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _cJun 2011 |
||
| 300 |
_a38 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 |
_aHematologic Diseases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNeoplasm Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aVestibular Diseases _xgenetics |
| 700 | 1 | _aAugello, Bartolomeo | |
| 700 | 1 | _aFusco, Carmela | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aLoviglio, Maria N | |
| 700 | 1 | _aSilengo, Margherita Cirillo | |
| 700 | 1 | _aReymond, Alexandre | |
| 700 | 1 | _aGumiero, Barbara | |
| 700 | 1 | _aZucchetti, Federica | |
| 700 | 1 | _aD'Addetta, Ester V | |
| 700 | 1 | _aBelligni, Elga | |
| 700 | 1 | _aCalcagnì, Alessia | |
| 700 | 1 | _aDigilio, Maria C | |
| 700 | 1 | _aDallapiccola, Bruno | |
| 700 | 1 | _aFaravelli, Francesca | |
| 700 | 1 | _aForzano, Francesca | |
| 700 | 1 | _aAccadia, Maria | |
| 700 | 1 | _aBonfante, Aldo | |
| 700 | 1 | _aClementi, Maurizio | |
| 700 | 1 | _aDaolio, Cecilia | |
| 700 | 1 | _aDouzgou, Sofia | |
| 700 | 1 | _aFerrari, Paola | |
| 700 | 1 | _aFischetto, Rita | |
| 700 | 1 | _aGaravelli, Livia | |
| 700 | 1 | _aLapi, Elisabetta | |
| 700 | 1 | _aMattina, Teresa | |
| 700 | 1 | _aMelis, Daniela | |
| 700 | 1 | _aPatricelli, Maria G | |
| 700 | 1 | _aPriolo, Manuela | |
| 700 | 1 | _aProntera, Paolo | |
| 700 | 1 | _aRenieri, Alessandra | |
| 700 | 1 | _aMencarelli, Maria A | |
| 700 | 1 | _aScarano, Gioacchino | |
| 700 | 1 | _adella Monica, Matteo | |
| 700 | 1 | _aToschi, Benedetta | |
| 700 | 1 | _aTurolla, Licia | |
| 700 | 1 | _aVancini, Alessandra | |
| 700 | 1 | _aZatterale, Adriana | |
| 700 | 1 | _aGabrielli, Orazio | |
| 700 | 1 | _aZelante, Leopoldo | |
| 700 | 1 | _aMerla, Giuseppe | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 6 _gp. 38 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-6-38 _zAvailable from publisher's website |
| 999 |
_c20914387 _d20914387 |
||