| 000 | 01689 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516063830.0 | ||
| 264 | 0 | _c20120605 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2011.11.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMakrythanasis, Periklis | |
| 245 | 0 | 0 |
_aHomozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJan 2012 |
||
| 300 |
_a63-6 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 | _aAlleles |
| 650 | 0 | 4 |
_aAutistic Disorder _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 4 _xgenetics |
| 650 | 0 | 4 |
_aCognition Disorders _xgenetics |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPolydactyly _xgenetics |
| 700 | 1 | _aGimelli, Stefania | |
| 700 | 1 | _aBéna, Frédérique | |
| 700 | 1 | _aDahoun, Sophie | |
| 700 | 1 | _aMorris, Michael A | |
| 700 | 1 | _aAntonarakis, Stylianos E | |
| 700 | 1 | _aBottani, Armand | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 55 _gno. 1 _gp. 63-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2011.11.001 _zAvailable from publisher's website |
| 999 |
_c21308516 _d21308516 |
||