000 | 01627 a2200457 4500 | ||
---|---|---|---|
005 | 20250517182430.0 | ||
264 | 0 | _c20171102 | |
008 | 201711s 0 0 eng d | ||
022 | _a1471-2350 | ||
024 | 7 |
_a10.1186/s12881-017-0479-3 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWessel, Karen | |
245 | 0 | 0 |
_a17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. _h[electronic resource] |
260 |
_bBMC medical genetics _c10 2017 |
||
300 |
_a119 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAtaxia _xdiagnosis |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChromosome Duplication |
650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xchemistry |
650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
650 | 0 | 4 | _aElectroencephalography |
650 | 0 | 4 | _aGene Dosage |
650 | 0 | 4 | _aGene Expression |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLearning Disabilities _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aProteins _xgenetics |
650 | 0 | 4 |
_aPsychomotor Disorders _xdiagnosis |
650 | 0 | 4 |
_aSeizures _xdiagnosis |
650 | 0 | 4 |
_aSelf-Injurious Behavior _xdiagnosis |
650 | 0 | 4 |
_aSpeech Disorders _xdiagnosis |
700 | 1 | _aSuleiman, Jehan | |
700 | 1 | _aKhalaf, Tamam E | |
700 | 1 | _aKishore, Shivendra | |
700 | 1 | _aRolfs, Arndt | |
700 | 1 | _aEl-Hattab, Ayman W | |
773 | 0 |
_tBMC medical genetics _gvol. 18 _gno. 1 _gp. 119 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-017-0479-3 _zAvailable from publisher's website |
999 |
_c27722130 _d27722130 |