| 000 | 01686 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250518011838.0 | ||
| 264 | 0 | _c20200206 | |
| 008 | 202002s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2018.11.019 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGuleray, Naz | |
| 245 | 0 | 0 |
_aIntrafamilial variability of XYLT2-related spondyloocular syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cNov 2019 |
||
| 300 |
_a103585 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCataract _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aEye Diseases, Hereditary _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMusculoskeletal Abnormalities _xgenetics |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 |
_aOsteoporosis _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPentosyltransferases _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetinal Detachment _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aExome Sequencing |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 | _aUDP Xylose-Protein Xylosyltransferase |
| 700 | 1 | _aSimsek Kiper, Pelin Ozlem | |
| 700 | 1 | _aUtine, Gulen Eda | |
| 700 | 1 | _aBoduroglu, Koray | |
| 700 | 1 | _aAlikasifoglu, Mehmet | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 62 _gno. 11 _gp. 103585 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2018.11.019 _zAvailable from publisher's website |
| 999 |
_c29110830 _d29110830 |
||