| 000 | 02011 a2200637 4500 | ||
|---|---|---|---|
| 005 | 20250517092019.0 | ||
| 264 | 0 | _c20171031 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2015-103576 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAlston, Charlotte L | |
| 245 | 0 | 0 |
_aA recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _c09 2016 |
||
| 300 |
_a634-41 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDwarfism _xgenetics |
| 650 | 0 | 4 |
_aElectron Transport Complex I _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondria _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Diseases _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aHoward, Caoimhe | |
| 700 | 1 | _aOláhová, Monika | |
| 700 | 1 | _aHardy, Steven A | |
| 700 | 1 | _aHe, Langping | |
| 700 | 1 | _aMurray, Philip G | |
| 700 | 1 | _aO'Sullivan, Siobhan | |
| 700 | 1 | _aDoherty, Gary | |
| 700 | 1 | _aShield, Julian P H | |
| 700 | 1 | _aHargreaves, Iain P | |
| 700 | 1 | _aMonavari, Ardeshir A | |
| 700 | 1 | _aKnerr, Ina | |
| 700 | 1 | _aMcCarthy, Peter | |
| 700 | 1 | _aMorris, Andrew A M | |
| 700 | 1 | _aThorburn, David R | |
| 700 | 1 | _aProkisch, Holger | |
| 700 | 1 | _aClayton, Peter E | |
| 700 | 1 | _aMcFarland, Robert | |
| 700 | 1 | _aHughes, Joanne | |
| 700 | 1 | _aCrushell, Ellen | |
| 700 | 1 | _aTaylor, Robert W | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 53 _gno. 9 _gp. 634-41 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2015-103576 _zAvailable from publisher's website |
| 999 |
_c25938163 _d25938163 |
||