| 000 | 01717 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250515110925.0 | ||
| 264 | 0 | _c20080811 | |
| 008 | 200808s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2007.056507 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMei, D | |
| 245 | 0 | 0 |
_aHigh frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2008 |
||
| 300 |
_a355-61 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a1-Alkyl-2-acetylglycerophosphocholine Esterase _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Breakage |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 17 _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aLissencephaly _xdiagnosis |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 700 | 1 | _aLewis, R | |
| 700 | 1 | _aParrini, E | |
| 700 | 1 | _aLazarou, L P | |
| 700 | 1 | _aMarini, C | |
| 700 | 1 | _aPilz, D T | |
| 700 | 1 | _aGuerrini, R | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 45 _gno. 6 _gp. 355-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2007.056507 _zAvailable from publisher's website |
| 999 |
_c17789801 _d17789801 |
||