000 | 01500 a2200433 4500 | ||
---|---|---|---|
005 | 20250515031131.0 | ||
264 | 0 | _c20060727 | |
008 | 200607s 0 0 eng d | ||
022 | _a1769-7212 | ||
024 | 7 |
_a10.1016/j.ejmg.2005.07.002 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGamerdinger, Ulrike | |
245 | 0 | 0 |
_aFirst report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. _h[electronic resource] |
260 |
_bEuropean journal of medical genetics _c |
||
300 |
_a225-34 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aChromosome Disorders _xdiagnosis |
650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
650 | 0 | 4 | _aCytogenetic Analysis |
650 | 0 | 4 |
_aFace _xabnormalities |
650 | 0 | 4 | _aGene Duplication |
650 | 0 | 4 |
_aHip Dislocation, Congenital _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aKaryotyping |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMicrosatellite Repeats |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aTrisomy |
700 | 1 | _aBosse, Kristin | |
700 | 1 | _aEggermann, Thomas | |
700 | 1 | _aKalscheuer, Vera | |
700 | 1 | _aSchwanitz, Gesa | |
700 | 1 | _aEngels, Hartmut | |
773 | 0 |
_tEuropean journal of medical genetics _gvol. 49 _gno. 3 _gp. 225-34 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2005.07.002 _zAvailable from publisher's website |
999 |
_c16358552 _d16358552 |