| 000 | 01505 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250516110137.0 | ||
| 264 | 0 | _c20130722 | |
| 008 | 201307s 0 0 eng d | ||
| 022 | _a1532-2130 | ||
| 024 | 7 |
_a10.1016/j.ejpn.2012.06.009 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcCullagh, B G | |
| 245 | 0 | 0 |
_aDistinctive neurological phenotype associated with partial trisomy of chromosome 16. _h[electronic resource] |
| 260 |
_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _cJan 2013 |
||
| 300 |
_a105-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aBlindness, Cortical _xgenetics |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 16 |
| 650 | 0 | 4 |
_aDystonia _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aNeutropenia _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aTrisomy _xpathology |
| 700 | 1 | _aKerr, B | |
| 700 | 1 | _aTrueman, S | |
| 700 | 1 | _aTomlin, P I | |
| 700 | 1 | _aThomas, M | |
| 700 | 1 | _aWynn, R | |
| 700 | 1 | _ade Goede, C G E L | |
| 773 | 0 |
_tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _gvol. 17 _gno. 1 _gp. 105-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejpn.2012.06.009 _zAvailable from publisher's website |
| 999 |
_c22051605 _d22051605 |
||