| 000 | 01821 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250515191541.0 | ||
| 264 | 0 | _c20100518 | |
| 008 | 201005s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2009.175 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRujirabanjerd, Sinitdhorn | |
| 245 | 0 | 0 |
_aIdentification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cMar 2010 |
||
| 300 |
_a330-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectrophoresis, Agar Gel |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHistone Demethylases |
| 650 | 0 | 4 |
_aHistones _xmetabolism |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMethylation |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutant Proteins _xmetabolism |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aOxidoreductases, N-Demethylating _xchemistry |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aReverse Transcriptase Polymerase Chain Reaction |
| 700 | 1 | _aNelson, John | |
| 700 | 1 | _aTarpey, Patrick S | |
| 700 | 1 | _aHackett, Anna | |
| 700 | 1 | _aEdkins, Sarah | |
| 700 | 1 | _aRaymond, F Lucy | |
| 700 | 1 | _aSchwartz, Charles E | |
| 700 | 1 | _aTurner, Gillian | |
| 700 | 1 | _aIwase, Shigeki | |
| 700 | 1 | _aShi, Yang | |
| 700 | 1 | _aFutreal, P Andrew | |
| 700 | 1 | _aStratton, Michael R | |
| 700 | 1 | _aGecz, Jozef | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 18 _gno. 3 _gp. 330-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2009.175 _zAvailable from publisher's website |
| 999 |
_c19219869 _d19219869 |
||