| 000 | 01771 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250517063258.0 | ||
| 264 | 0 | _c20170522 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.12694 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWaryah, A M | |
| 245 | 0 | 0 |
_aA novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. _h[electronic resource] |
| 260 |
_bClinical genetics _c07 2016 |
||
| 300 |
_a90-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDisease Progression |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 |
_aHearing Loss, Bilateral _xcomplications |
| 650 | 0 | 4 |
_aHeart Valve Diseases _xcomplications |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSulfotransferases _xgenetics |
| 650 | 0 | 4 | _aCarbohydrate Sulfotransferases |
| 700 | 1 | _aShahzad, M | |
| 700 | 1 | _aShaikh, H | |
| 700 | 1 | _aSheikh, S A | |
| 700 | 1 | _aChanna, N A | |
| 700 | 1 | _aHufnagel, R B | |
| 700 | 1 | _aMakhdoom, A | |
| 700 | 1 | _aRiazuddin, S | |
| 700 | 1 | _aAhmed, Z M | |
| 773 | 0 |
_tClinical genetics _gvol. 90 _gno. 1 _gp. 90-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12694 _zAvailable from publisher's website |
| 999 |
_c25452517 _d25452517 |
||