| 000 | 01537 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517004331.0 | ||
| 264 | 0 | _c20150724 | |
| 008 | 201507s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2014.09.009 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGerundino, Francesca | |
| 245 | 0 | 0 |
_a16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _c |
||
| 300 |
_a649-53 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosome Disorders _xdiagnosis |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 16 _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xdiagnosis |
| 700 | 1 | _aMarseglia, Guiseppina | |
| 700 | 1 | _aPescucci, Chiara | |
| 700 | 1 | _aPelo, Elisabetta | |
| 700 | 1 | _aBenelli, Matteo | |
| 700 | 1 | _aGiachini, Claudia | |
| 700 | 1 | _aFederighi, Benedetta | |
| 700 | 1 | _aAntonelli, Carla | |
| 700 | 1 | _aTorricelli, Francesca | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 57 _gno. 11-12 _gp. 649-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2014.09.009 _zAvailable from publisher's website |
| 999 |
_c24406260 _d24406260 |
||