| 000 | 01519 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517080247.0 | ||
| 264 | 0 | _c20170104 | |
| 008 | 201701s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.37592 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSperry, Ethan D | |
| 245 | 0 | 0 |
_aDuplication 2p25 in a child with clinical features of CHARGE syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2016 |
||
| 300 |
_a1148-54 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 |
_aCHARGE Syndrome _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 2 _xgenetics |
| 650 | 0 | 4 |
_aDNA Copy Number Variations _xgenetics |
| 650 | 0 | 4 |
_aDNA Helicases _xgenetics |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Duplication _xgenetics |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aSOXC Transcription Factors _xbiosynthesis |
| 650 | 0 | 4 |
_aTrisomy _xgenetics |
| 700 | 1 | _aSchuette, Jane L | |
| 700 | 1 | _avan Ravenswaaij-Arts, Conny M A | |
| 700 | 1 | _aGreen, Glenn E | |
| 700 | 1 | _aMartin, Donna M | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 170A _gno. 5 _gp. 1148-54 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37592 _zAvailable from publisher's website |
| 999 |
_c25707690 _d25707690 |
||