| 000 | 02439 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250516075222.0 | ||
| 264 | 0 | _c20120619 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2011.12.023 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLines, Matthew A | |
| 245 | 0 | 0 |
_aHaploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cFeb 2012 |
||
| 300 |
_a369-77 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTP Phosphohydrolases _xgenetics |
| 650 | 0 | 4 |
_aHaploinsufficiency _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xgenetics |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 650 | 0 | 4 |
_aRibonucleoprotein, U5 Small Nuclear _xgenetics |
| 650 | 0 | 4 |
_aSpliceosomes _xgenetics |
| 700 | 1 | _aHuang, Lijia | |
| 700 | 1 | _aSchwartzentruber, Jeremy | |
| 700 | 1 | _aDouglas, Stuart L | |
| 700 | 1 | _aLynch, Danielle C | |
| 700 | 1 | _aBeaulieu, Chandree | |
| 700 | 1 | _aGuion-Almeida, Maria Leine | |
| 700 | 1 | _aZechi-Ceide, Roseli Maria | |
| 700 | 1 | _aGener, Blanca | |
| 700 | 1 | _aGillessen-Kaesbach, Gabriele | |
| 700 | 1 | _aNava, Caroline | |
| 700 | 1 | _aBaujat, Geneviève | |
| 700 | 1 | _aHorn, Denise | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aCaliebe, Almuth | |
| 700 | 1 | _aAlanay, Yasemin | |
| 700 | 1 | _aUtine, Gulen Eda | |
| 700 | 1 | _aLev, Dorit | |
| 700 | 1 | _aKohlhase, Jürgen | |
| 700 | 1 | _aGrix, Arthur W | |
| 700 | 1 | _aLohmann, Dietmar R | |
| 700 | 1 | _aHehr, Ute | |
| 700 | 1 | _aBöhm, Detlef | |
| 700 | 1 | _aMajewski, Jacek | |
| 700 | 1 | _aBulman, Dennis E | |
| 700 | 1 | _aWieczorek, Dagmar | |
| 700 | 1 | _aBoycott, Kym M | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 90 _gno. 2 _gp. 369-77 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2011.12.023 _zAvailable from publisher's website |
| 999 |
_c21518066 _d21518066 |
||