| 000 | 01291 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517125200.0 | ||
| 264 | 0 | _c20170630 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12863 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBoyle, M I | |
| 245 | 0 | 0 |
_aA novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature. _h[electronic resource] |
| 260 |
_bClinical genetics _cApr 2017 |
||
| 300 |
_a647-649 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPenetrance |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 700 | 1 | _aJespersgaard, C | |
| 700 | 1 | _aNazaryan, L | |
| 700 | 1 | _aBisgaard, A-M | |
| 700 | 1 | _aTümer, Z | |
| 773 | 0 |
_tClinical genetics _gvol. 91 _gno. 4 _gp. 647-649 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12863 _zAvailable from publisher's website |
| 999 |
_c26636216 _d26636216 |
||