| 000 | 01577 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250518011941.0 | ||
| 264 | 0 | _c20190508 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a1932-6203 | ||
| 024 | 7 |
_a10.1371/journal.pone.0208324 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcSherry, Megan | |
| 245 | 0 | 0 |
_aIdentification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability. _h[electronic resource] |
| 260 |
_bPloS one _c2018 |
||
| 300 |
_ae0208324 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 700 | 1 | _aMasih, Katherine E | |
| 700 | 1 | _aElcioglu, Nursel H | |
| 700 | 1 | _aCelik, Pelin | |
| 700 | 1 | _aBalci, Ozge | |
| 700 | 1 | _aCengiz, Filiz Basak | |
| 700 | 1 | _aNunez, Daniella | |
| 700 | 1 | _aSineni, Claire J | |
| 700 | 1 | _aSeyhan, Serhat | |
| 700 | 1 | _aKocaoglu, Defne | |
| 700 | 1 | _aGuo, Shengru | |
| 700 | 1 | _aDuman, Duygu | |
| 700 | 1 | _aBademci, Guney | |
| 700 | 1 | _aTekin, Mustafa | |
| 773 | 0 |
_tPloS one _gvol. 13 _gno. 11 _gp. e0208324 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1371/journal.pone.0208324 _zAvailable from publisher's website |
| 999 |
_c29114811 _d29114811 |
||