| 000 | 01344 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517092947.0 | ||
| 264 | 0 | _c20171003 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1552-4876 | ||
| 024 | 7 |
_a10.1002/ajmg.c.31495 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKaur, Maninder | |
| 245 | 0 | 0 |
_aNIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part C, Seminars in medical genetics _c06 2016 |
||
| 300 |
_a163-70 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aProteins _xanalysis |
| 650 | 0 | 4 | _aSeverity of Illness Index |
| 700 | 1 | _aMehta, Devanshi | |
| 700 | 1 | _aNoon, Sarah E | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 700 | 1 | _aZhang, Zhe | |
| 700 | 1 | _aKrantz, Ian D | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part C, Seminars in medical genetics _gvol. 172 _gno. 2 _gp. 163-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.c.31495 _zAvailable from publisher's website |
| 999 |
_c25968916 _d25968916 |
||