000 | 02090 a2200649 4500 | ||
---|---|---|---|
005 | 20250516223701.0 | ||
264 | 0 | _c20150420 | |
008 | 201504s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.36678 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBayram, Yavuz | |
245 | 0 | 0 |
_aWhole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cSep 2014 |
||
300 |
_a2328-34 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aAlopecia _xgenetics |
650 | 0 | 4 |
_aAnodontia _xgenetics |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aChromosome Segregation _xgenetics |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 |
_aExome _xgenetics |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMicrofilament Proteins |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aNeoplasm Proteins _xchemistry |
650 | 0 | 4 |
_aOptic Atrophies, Hereditary _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aProtein Structure, Tertiary |
650 | 0 | 4 |
_aReceptors, Cell Surface _xchemistry |
700 | 1 | _aPehlivan, Davut | |
700 | 1 | _aKaraca, Ender | |
700 | 1 | _aGambin, Tomasz | |
700 | 1 | _aJhangiani, Shalini N | |
700 | 1 | _aErdin, Serkan | |
700 | 1 | _aGonzaga-Jauregui, Claudia | |
700 | 1 | _aWiszniewski, Wojciech | |
700 | 1 | _aMuzny, Donna | |
700 | 1 | _aElcioglu, Nursel H | |
700 | 1 | _aYildirim, M Selman | |
700 | 1 | _aBozkurt, Banu | |
700 | 1 | _aZamani, Ayse Gul | |
700 | 1 | _aBoerwinkle, Eric | |
700 | 1 | _aGibbs, Richard A | |
700 | 1 | _aLupski, James R | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 9 _gp. 2328-34 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36678 _zAvailable from publisher's website |
999 |
_c24026646 _d24026646 |