| 000 | 01344 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515210444.0 | ||
| 264 | 0 | _c20100721 | |
| 008 | 201007s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddq075 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBéna, Frédérique | |
| 245 | 0 | 0 |
_aA recurrent 14q32.2 microdeletion mediated by expanded TGG repeats. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cMay 2010 |
||
| 300 |
_a1967-73 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 14 _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aPhysical Chromosome Mapping |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 |
_aTrinucleotide Repeat Expansion _xgenetics |
| 700 | 1 | _aGimelli, Stefania | |
| 700 | 1 | _aMigliavacca, Eugenia | |
| 700 | 1 | _aBrun-Druc, Nathalie | |
| 700 | 1 | _aBuiting, Karin | |
| 700 | 1 | _aAntonarakis, Stylianos E | |
| 700 | 1 | _aSharp, Andrew J | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 19 _gno. 10 _gp. 1967-73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddq075 _zAvailable from publisher's website |
| 999 |
_c19547904 _d19547904 |
||