| 000 | 01867 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250515172608.0 | ||
| 264 | 0 | _c20091207 | |
| 008 | 200912s 0 0 eng d | ||
| 022 | _a1364-6753 | ||
| 024 | 7 |
_a10.1007/s10048-009-0195-z _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aErez, Ayelet | |
| 245 | 0 | 0 |
_aAlu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. _h[electronic resource] |
| 260 |
_bNeurogenetics _cOct 2009 |
||
| 300 |
_a363-9 p. _bdigital |
||
| 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 _xgenetics |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aRett Syndrome _xgenetics |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aX Chromosome Inactivation |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aPatel, Amina J | |
| 700 | 1 | _aWang, Xueqing | |
| 700 | 1 | _aXia, Zhilian | |
| 700 | 1 | _aBhatt, Samarth S | |
| 700 | 1 | _aCraigen, William | |
| 700 | 1 | _aCheung, Sau Wai | |
| 700 | 1 | _aLewis, Richard A | |
| 700 | 1 | _aFang, Ping | |
| 700 | 1 | _aDavenport, Sandra L H | |
| 700 | 1 | _aStankiewicz, Pawel | |
| 700 | 1 | _aLalani, Seema R | |
| 773 | 0 |
_tNeurogenetics _gvol. 10 _gno. 4 _gp. 363-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10048-009-0195-z _zAvailable from publisher's website |
| 999 |
_c18897612 _d18897612 |
||