000 | 01619 a2200481 4500 | ||
---|---|---|---|
005 | 20250515102925.0 | ||
264 | 0 | _c20080118 | |
008 | 200801s 0 0 eng d | ||
022 | _a1424-859X | ||
024 | 7 |
_a10.1159/000109634 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBartsch, O | |
245 | 0 | 0 |
_aTwo independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis. _h[electronic resource] |
260 |
_bCytogenetic and genome research _c2007 |
||
300 |
_a158-64 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
650 | 0 | 4 | _aCytogenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGene Duplication |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aNeurofibromatoses _xgenetics |
650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
650 | 0 | 4 |
_aTelomere _xclassification |
700 | 1 | _aVlcková, Z | |
700 | 1 | _aErdogan, F | |
700 | 1 | _aUllmann, R | |
700 | 1 | _aNovotná, D | |
700 | 1 | _aSpiegel, M | |
700 | 1 | _aBeyer, V | |
700 | 1 | _aHaaf, T | |
700 | 1 | _aZechner, U | |
700 | 1 | _aSeemanová, E | |
773 | 0 |
_tCytogenetic and genome research _gvol. 119 _gno. 1-2 _gp. 158-64 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1159/000109634 _zAvailable from publisher's website |
999 |
_c17672006 _d17672006 |