| 000 | 01619 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517173425.0 | ||
| 264 | 0 | _c20190911 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13137 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAgolini, E | |
| 245 | 0 | 0 |
_aExpanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review. _h[electronic resource] |
| 260 |
_bClinical genetics _c03 2018 |
||
| 300 |
_a675-681 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aKaryotype |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein-Arginine N-Methyltransferases _xgenetics |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aDentici, M L | |
| 700 | 1 | _aBellacchio, E | |
| 700 | 1 | _aAlesi, V | |
| 700 | 1 | _aRadio, F C | |
| 700 | 1 | _aTorella, A | |
| 700 | 1 | _aMusacchia, F | |
| 700 | 1 | _aTartaglia, M | |
| 700 | 1 | _aDallapiccola, B | |
| 700 | 1 | _aNigro, V | |
| 700 | 1 | _aDigilio, M C | |
| 700 | 1 | _aNovelli, A | |
| 773 | 0 |
_tClinical genetics _gvol. 93 _gno. 3 _gp. 675-681 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13137 _zAvailable from publisher's website |
| 999 |
_c27557248 _d27557248 |
||