| 000 | 01705 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250518051854.0 | ||
| 264 | 0 | _c20200619 | |
| 008 | 202006s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.865 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHancarova, Miroslava | |
| 245 | 0 | 0 |
_aA novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c09 2019 |
||
| 300 |
_ae865 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aArmenia _xepidemiology |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aBabikyan, Davit | |
| 700 | 1 | _aBendova, Sarka | |
| 700 | 1 | _aMidyan, Susanna | |
| 700 | 1 | _aPrchalova, Darina | |
| 700 | 1 | _aShahsuvaryan, Gohar | |
| 700 | 1 | _aStranecky, Viktor | |
| 700 | 1 | _aSarkisian, Tamara | |
| 700 | 1 | _aSedlacek, Zdenek | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 7 _gno. 9 _gp. e865 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.865 _zAvailable from publisher's website |
| 999 |
_c29929519 _d29929519 |
||