| 000 | 01555 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517013247.0 | ||
| 264 | 0 | _c20151221 | |
| 008 | 201512s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2014-102815 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSant, David W | |
| 245 | 0 | 0 |
_aEvaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cApr 2015 |
||
| 300 |
_a256-61 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Neurofibromatosis 1 |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeurofibromatosis 1 _xgenetics |
| 650 | 0 | 4 |
_aPseudarthrosis _xgenetics |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 |
_aTibia _xdiagnostic imaging |
| 700 | 1 | _aMargraf, Rebecca L | |
| 700 | 1 | _aStevenson, David A | |
| 700 | 1 | _aGrossmann, Allie H | |
| 700 | 1 | _aViskochil, David H | |
| 700 | 1 | _aHanson, Heather | |
| 700 | 1 | _aEveritt, Melanie D | |
| 700 | 1 | _aRios, Jonathan J | |
| 700 | 1 | _aElefteriou, Florent | |
| 700 | 1 | _aHennessey, Theresa | |
| 700 | 1 | _aMao, Rong | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 52 _gno. 4 _gp. 256-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2014-102815 _zAvailable from publisher's website |
| 999 |
_c24557231 _d24557231 |
||