| 000 | 01743 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516223702.0 | ||
| 264 | 0 | _c20150604 | |
| 008 | 201506s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36679 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWatson, Christopher M | |
| 245 | 0 | 0 |
_aDiagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cOct 2014 |
||
| 300 |
_a2649-55 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aDNA Copy Number Variations _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xdeficiency |
| 650 | 0 | 4 |
_aMolecular Diagnostic Techniques _xmethods |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xdeficiency |
| 650 | 0 | 4 |
_aNucleotides _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 700 | 1 | _aCrinnion, Laura A | |
| 700 | 1 | _aTzika, Antigoni | |
| 700 | 1 | _aMills, Alison | |
| 700 | 1 | _aCoates, Andrea | |
| 700 | 1 | _aPendlebury, Maria | |
| 700 | 1 | _aHewitt, Sarah | |
| 700 | 1 | _aHarrison, Sally M | |
| 700 | 1 | _aDaly, Catherine | |
| 700 | 1 | _aRoberts, Paul | |
| 700 | 1 | _aCarr, Ian M | |
| 700 | 1 | _aSheridan, Eamonn G | |
| 700 | 1 | _aBonthron, David T | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 10 _gp. 2649-55 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36679 _zAvailable from publisher's website |
| 999 |
_c24026666 _d24026666 |
||