| 000 | 02347 a2200781 4500 | ||
|---|---|---|---|
| 005 | 20250517005220.0 | ||
| 264 | 0 | _c20150227 | |
| 008 | 201502s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2014.11.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aEhmke, Nadja | |
| 245 | 0 | 0 |
_aHomozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cDec 2014 |
||
| 300 |
_a763-70 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xenzymology |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOxidoreductases _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPierre Robin Syndrome _xenzymology |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aCaliebe, Almuth | |
| 700 | 1 | _aKoenig, Rainer | |
| 700 | 1 | _aKant, Sarina G | |
| 700 | 1 | _aStark, Zornitza | |
| 700 | 1 | _aCormier-Daire, Valérie | |
| 700 | 1 | _aWieczorek, Dagmar | |
| 700 | 1 | _aGillessen-Kaesbach, Gabriele | |
| 700 | 1 | _aHoff, Kirstin | |
| 700 | 1 | _aKawalia, Amit | |
| 700 | 1 | _aThiele, Holger | |
| 700 | 1 | _aAltmüller, Janine | |
| 700 | 1 | _aFischer-Zirnsak, Björn | |
| 700 | 1 | _aKnaus, Alexej | |
| 700 | 1 | _aZhu, Na | |
| 700 | 1 | _aHeinrich, Verena | |
| 700 | 1 | _aHuber, Celine | |
| 700 | 1 | _aHarabula, Izabela | |
| 700 | 1 | _aSpielmann, Malte | |
| 700 | 1 | _aHorn, Denise | |
| 700 | 1 | _aKornak, Uwe | |
| 700 | 1 | _aHecht, Jochen | |
| 700 | 1 | _aKrawitz, Peter M | |
| 700 | 1 | _aNürnberg, Peter | |
| 700 | 1 | _aSiebert, Reiner | |
| 700 | 1 | _aManzke, Hermann | |
| 700 | 1 | _aMundlos, Stefan | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 95 _gno. 6 _gp. 763-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2014.11.004 _zAvailable from publisher's website |
| 999 |
_c24433130 _d24433130 |
||