| 000 | 02237 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250517092106.0 | ||
| 264 | 0 | _c20171215 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSaunier, Chloé | |
| 245 | 0 | 0 |
_aExpanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency. _h[electronic resource] |
| 260 |
_bHuman mutation _c08 2016 |
||
| 300 |
_a755-64 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAcetylation |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aN-Terminal Acetyltransferase A _xchemistry |
| 650 | 0 | 4 |
_aN-Terminal Acetyltransferase E _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aStøve, Svein Isungset | |
| 700 | 1 | _aPopp, Bernt | |
| 700 | 1 | _aGérard, Bénédicte | |
| 700 | 1 | _aBlenski, Marina | |
| 700 | 1 | _aAhMew, Nicholas | |
| 700 | 1 | _ade Bie, Charlotte | |
| 700 | 1 | _aGoldenberg, Paula | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aKeren, Boris | |
| 700 | 1 | _aLeheup, Bruno | |
| 700 | 1 | _aLampert, Laetitia | |
| 700 | 1 | _aMignot, Cyril | |
| 700 | 1 | _aTezcan, Kamer | |
| 700 | 1 | _aMancini, Grazia M S | |
| 700 | 1 | _aNava, Caroline | |
| 700 | 1 | _aWasserstein, Melissa | |
| 700 | 1 | _aBruel, Ange-Line | |
| 700 | 1 | _aThevenon, Julien | |
| 700 | 1 | _aMasurel, Alice | |
| 700 | 1 | _aDuffourd, Yannis | |
| 700 | 1 | _aKuentz, Paul | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _aRivière, Jean-Baptiste | |
| 700 | 1 | _avan Slegtenhorst, Marjon | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aPiton, Amélie | |
| 700 | 1 | _aReis, André | |
| 700 | 1 | _aArnesen, Thomas | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aZweier, Christiane | |
| 773 | 0 |
_tHuman mutation _gvol. 37 _gno. 8 _gp. 755-64 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23001 _zAvailable from publisher's website |
| 999 |
_c25940813 _d25940813 |
||