| 000 | 01349 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517140836.0 | ||
| 264 | 0 | _c20171019 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38066 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCostain, Gregory | |
| 245 | 0 | 0 |
_aHomozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMar 2017 |
||
| 300 |
_a740-743 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aShugar, Andrea | |
| 700 | 1 | _aKrishnan, Pradeep | |
| 700 | 1 | _aMahmutoglu, Saadet | |
| 700 | 1 | _aLaughlin, Suzanne | |
| 700 | 1 | _aKannu, Peter | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 3 _gp. 740-743 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38066 _zAvailable from publisher's website |
| 999 |
_c26890973 _d26890973 |
||