| 000 | 01339 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250518015342.0 | ||
| 264 | 0 | _c20200526 | |
| 008 | 202005s 0 0 eng d | ||
| 022 | _a2373-2873 | ||
| 024 | 7 |
_a10.1101/mcs.a003608 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMurdock, David R | |
| 245 | 0 | 0 |
_aXia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. _h[electronic resource] |
| 260 |
_bCold Spring Harbor molecular case studies _c06 2019 |
||
| 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 _xdiagnosis |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aJiang, Yunyun | |
| 700 | 1 | _aWangler, Michael | |
| 700 | 1 | _aKhayat, Michael M | |
| 700 | 1 | _aSabo, Aniko | |
| 700 | 1 | _aJuusola, Jane | |
| 700 | 1 | _aMcWalter, Kirsty | |
| 700 | 1 | _aSchatz, Krista Sondergaard | |
| 700 | 1 | _aGunay-Aygun, Meral | |
| 700 | 1 | _aGibbs, Richard A | |
| 773 | 0 |
_tCold Spring Harbor molecular case studies _gvol. 5 _gno. 3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1101/mcs.a003608 _zAvailable from publisher's website |
| 999 |
_c29233556 _d29233556 |
||