| 000 | 01594 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515045110.0 | ||
| 264 | 0 | _c20070928 | |
| 008 | 200709s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s00439-006-0276-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNallathambi, Jeyabalan | |
| 245 | 0 | 0 |
_aA novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. _h[electronic resource] |
| 260 |
_bHuman genetics _cMar 2007 |
||
| 300 |
_a107-12 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBlepharophimosis _xgenetics |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 | _aChlorocebus aethiops |
| 650 | 0 | 4 |
_aDNA Repeat Expansion _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aForkhead Box Protein L2 |
| 650 | 0 | 4 |
_aForkhead Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIndia |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeptides _xgenetics |
| 650 | 0 | 4 |
_aPrimary Ovarian Insufficiency _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMoumné, Lara | |
| 700 | 1 | _aDe Baere, Elfride | |
| 700 | 1 | _aBeysen, Diane | |
| 700 | 1 | _aUsha, Kim | |
| 700 | 1 | _aSundaresan, Periasamy | |
| 700 | 1 | _aVeitia, Reiner A | |
| 773 | 0 |
_tHuman genetics _gvol. 121 _gno. 1 _gp. 107-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00439-006-0276-0 _zAvailable from publisher's website |
| 999 |
_c16662297 _d16662297 |
||