| 000 | 01642 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250518013533.0 | ||
| 264 | 0 | _c20200206 | |
| 008 | 202002s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.60700 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRath, Matthias | |
| 245 | 0 | 0 |
_aIdentification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _c02 2019 |
||
| 300 |
_a295-299 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aArterial Occlusive Diseases _xgenetics |
| 650 | 0 | 4 |
_aBone and Bones _xabnormalities |
| 650 | 0 | 4 |
_aBrachydactyly _xgenetics |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertension _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProtein Isoforms _xgenetics |
| 650 | 0 | 4 |
_aSyndactyly _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aSpiegler, Stefanie | |
| 700 | 1 | _aStrom, Tim M | |
| 700 | 1 | _aTrenkler, Johannes | |
| 700 | 1 | _aKroisel, Peter Michael | |
| 700 | 1 | _aFelbor, Ute | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 179 _gno. 2 _gp. 295-299 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.60700 _zAvailable from publisher's website |
| 999 |
_c29169156 _d29169156 |
||