| 000 | 02881 a2200913 4500 | ||
|---|---|---|---|
| 005 | 20250517054847.0 | ||
| 264 | 0 | _c20160307 | |
| 008 | 201603s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.3410 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAkawi, Nadia | |
| 245 | 0 | 0 |
_aDiscovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. _h[electronic resource] |
| 260 |
_bNature genetics _cNov 2015 |
||
| 300 |
_a1363-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xclassification |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMatrix Metalloproteinases, Secreted _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein-Arginine N-Methyltransferases _xgenetics |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aUbiquitin-Protein Ligases _xgenetics |
| 650 | 0 | 4 | _aUnited Kingdom |
| 700 | 1 | _aMcRae, Jeremy | |
| 700 | 1 | _aAnsari, Morad | |
| 700 | 1 | _aBalasubramanian, Meena | |
| 700 | 1 | _aBlyth, Moira | |
| 700 | 1 | _aBrady, Angela F | |
| 700 | 1 | _aClayton, Stephen | |
| 700 | 1 | _aCole, Trevor | |
| 700 | 1 | _aDeshpande, Charu | |
| 700 | 1 | _aFitzgerald, Tomas W | |
| 700 | 1 | _aFoulds, Nicola | |
| 700 | 1 | _aFrancis, Richard | |
| 700 | 1 | _aGabriel, George | |
| 700 | 1 | _aGerety, Sebastian S | |
| 700 | 1 | _aGoodship, Judith | |
| 700 | 1 | _aHobson, Emma | |
| 700 | 1 | _aJones, Wendy D | |
| 700 | 1 | _aJoss, Shelagh | |
| 700 | 1 | _aKing, Daniel | |
| 700 | 1 | _aKlena, Nikolai | |
| 700 | 1 | _aKumar, Ajith | |
| 700 | 1 | _aLees, Melissa | |
| 700 | 1 | _aLelliott, Chris | |
| 700 | 1 | _aLord, Jenny | |
| 700 | 1 | _aMcMullan, Dominic | |
| 700 | 1 | _aO'Regan, Mary | |
| 700 | 1 | _aOsio, Deborah | |
| 700 | 1 | _aPiombo, Virginia | |
| 700 | 1 | _aPrigmore, Elena | |
| 700 | 1 | _aRajan, Diana | |
| 700 | 1 | _aRosser, Elisabeth | |
| 700 | 1 | _aSifrim, Alejandro | |
| 700 | 1 | _aSmith, Audrey | |
| 700 | 1 | _aSwaminathan, Ganesh J | |
| 700 | 1 | _aTurnpenny, Peter | |
| 700 | 1 | _aWhitworth, James | |
| 700 | 1 | _aWright, Caroline F | |
| 700 | 1 | _aFirth, Helen V | |
| 700 | 1 | _aBarrett, Jeffrey C | |
| 700 | 1 | _aLo, Cecilia W | |
| 700 | 1 | _aFitzPatrick, David R | |
| 700 | 1 | _aHurles, Matthew E | |
| 773 | 0 |
_tNature genetics _gvol. 47 _gno. 11 _gp. 1363-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3410 _zAvailable from publisher's website |
| 999 |
_c25325227 _d25325227 |
||