| 000 | 01785 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250517133904.0 | ||
| 264 | 0 | _c20171113 | |
| 008 | 201711s 0 0 eng d | ||
| 022 | _a1744-5094 | ||
| 024 | 7 |
_a10.1080/13816810.2016.1275018 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTompson, Stuart W | |
| 245 | 0 | 0 |
_aReduced penetrance in a large Caucasian pedigree with Stickler syndrome. _h[electronic resource] |
| 260 |
_bOphthalmic genetics _c |
||
| 300 |
_a43-50 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAged |
| 650 | 0 | 4 |
_aArthritis _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aCollagen Type II _xgenetics |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xdiagnosis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Linkage |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPenetrance |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRetinal Detachment _xdiagnosis |
| 650 | 0 | 4 |
_aWhite People _xgenetics |
| 700 | 1 | _aJohnson, Charles | |
| 700 | 1 | _aAbbott, Diana | |
| 700 | 1 | _aBakall, Benjamin | |
| 700 | 1 | _aSoler, Vincent | |
| 700 | 1 | _aYanovitch, Tammy L | |
| 700 | 1 | _aWhisenhunt, Kristina N | |
| 700 | 1 | _aKlemm, Thomas | |
| 700 | 1 | _aRozen, Steve | |
| 700 | 1 | _aStone, Edwin M | |
| 700 | 1 | _aJohnson, Max | |
| 700 | 1 | _aYoung, Terri L | |
| 773 | 0 |
_tOphthalmic genetics _gvol. 38 _gno. 1 _gp. 43-50 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1080/13816810.2016.1275018 _zAvailable from publisher's website |
| 999 |
_c26791773 _d26791773 |
||