| 000 | 01679 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516131025.0 | ||
| 264 | 0 | _c20130701 | |
| 008 | 201307s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.35727 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVarvagiannis, Konstantinos | |
| 245 | 0 | 0 |
_aPure de novo partial trisomy 6p in a girl with craniosynostosis. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cFeb 2013 |
||
| 300 |
_a343-51 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 6 |
| 650 | 0 | 4 |
_aCore Binding Factor Alpha 1 Subunit _xgenetics |
| 650 | 0 | 4 |
_aCraniosynostoses _xdiagnostic imaging |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTrisomy |
| 700 | 1 | _aStefanidou, Amalia | |
| 700 | 1 | _aGyftodimou, Yolanda | |
| 700 | 1 | _aLord, Helen | |
| 700 | 1 | _aWilliams, Louise | |
| 700 | 1 | _aSarri, Catherine | |
| 700 | 1 | _aPandelia, Efi | |
| 700 | 1 | _aBazopoulou-Kyrkanidou, Euterpe | |
| 700 | 1 | _aNoakes, Charlotte | |
| 700 | 1 | _aLester, Tracy | |
| 700 | 1 | _aWilkie, Andrew O M | |
| 700 | 1 | _aPetersen, Michael B | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 2 _gp. 343-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35727 _zAvailable from publisher's website |
| 999 |
_c22410330 _d22410330 |
||