| 000 | 01550 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516052333.0 | ||
| 264 | 0 | _c20120126 | |
| 008 | 201201s 0 0 eng d | ||
| 022 | _a1423-0062 | ||
| 024 | 7 |
_a10.1159/000330164 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPippucci, Tommaso | |
| 245 | 0 | 0 |
_aEX-HOM (EXome HOMozygosity): a proof of principle. _h[electronic resource] |
| 260 |
_bHuman heredity _c2011 |
||
| 300 |
_a45-53 p. _bdigital |
||
| 500 | _aPublication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aGenes, Recessive _xgenetics |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 |
_aHereditary Central Nervous System Demyelinating Diseases _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aItaly |
| 650 | 0 | 4 | _aLod Score |
| 650 | 0 | 4 |
_aMixed Function Oxygenases _xgenetics |
| 650 | 0 | 4 |
_aParaparesis, Spastic _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aBenelli, Matteo | |
| 700 | 1 | _aMagi, Alberto | |
| 700 | 1 | _aMartelli, Pier Luigi | |
| 700 | 1 | _aMagini, Pamela | |
| 700 | 1 | _aTorricelli, Francesca | |
| 700 | 1 | _aCasadio, Rita | |
| 700 | 1 | _aSeri, Marco | |
| 700 | 1 | _aRomeo, Giovanni | |
| 773 | 0 |
_tHuman heredity _gvol. 72 _gno. 1 _gp. 45-53 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000330164 _zAvailable from publisher's website |
| 999 |
_c21093362 _d21093362 |
||