| 000 | 01546 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516125616.0 | ||
| 264 | 0 | _c20130325 | |
| 008 | 201303s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2012.12.027 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHancarova, Miroslava | |
| 245 | 0 | 0 |
_aIdentification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15. _h[electronic resource] |
| 260 |
_bGene _cMar 2013 |
||
| 300 |
_a158-61 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 2 _xgenetics |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aKaryotype |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aVejvalkova, Sarka | |
| 700 | 1 | _aTrkova, Marie | |
| 700 | 1 | _aDrabova, Jana | |
| 700 | 1 | _aDleskova, Alzbeta | |
| 700 | 1 | _aVlckova, Marketa | |
| 700 | 1 | _aSedlacek, Zdenek | |
| 773 | 0 |
_tGene _gvol. 516 _gno. 1 _gp. 158-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2012.12.027 _zAvailable from publisher's website |
| 999 |
_c22371484 _d22371484 |
||