| 000 | 01375 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250514065746.0 | ||
| 264 | 0 | _c20030805 | |
| 008 | 200308s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.40.5.e62 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMeins, M | |
| 245 | 0 | 0 |
_aPartial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMay 2003 |
||
| 300 |
_ae62 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Review | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 22 _xgenetics |
| 650 | 0 | 4 |
_aEye Abnormalities _xgenetics |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTrisomy _xgenetics |
| 700 | 1 | _aBurfeind, P | |
| 700 | 1 | _aMotsch, S | |
| 700 | 1 | _aTrappe, R | |
| 700 | 1 | _aBartmus, D | |
| 700 | 1 | _aLanger, S | |
| 700 | 1 | _aSpeicher, M R | |
| 700 | 1 | _aMühlendyck, H | |
| 700 | 1 | _aBartels, I | |
| 700 | 1 | _aZoll, B | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 40 _gno. 5 _gp. e62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.40.5.e62 _zAvailable from publisher's website |
| 999 |
_c12534875 _d12534875 |
||