| 000 | 04260 a2201405 4500 | ||
|---|---|---|---|
| 005 | 20250516191152.0 | ||
| 264 | 0 | _c20150112 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddu002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKaiser, Frank J | |
| 245 | 0 | 0 |
_aLoss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cJun 2014 |
||
| 300 |
_a2888-900 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCranial Fontanelles _xabnormalities |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xenzymology |
| 650 | 0 | 4 |
_aEye Abnormalities _xenzymology |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 |
_aHistone Deacetylases _xchemistry |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertelorism _xenzymology |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRepressor Proteins _xchemistry |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aAnsari, Morad | |
| 700 | 1 | _aBraunholz, Diana | |
| 700 | 1 | _aConcepción Gil-Rodríguez, María | |
| 700 | 1 | _aDecroos, Christophe | |
| 700 | 1 | _aWilde, Jonathan J | |
| 700 | 1 | _aFincher, Christopher T | |
| 700 | 1 | _aKaur, Maninder | |
| 700 | 1 | _aBando, Masashige | |
| 700 | 1 | _aAmor, David J | |
| 700 | 1 | _aAtwal, Paldeep S | |
| 700 | 1 | _aBahlo, Melanie | |
| 700 | 1 | _aBowman, Christine M | |
| 700 | 1 | _aBradley, Jacquelyn J | |
| 700 | 1 | _aBrunner, Han G | |
| 700 | 1 | _aClark, Dinah | |
| 700 | 1 | _aDel Campo, Miguel | |
| 700 | 1 | _aDi Donato, Nataliya | |
| 700 | 1 | _aDiakumis, Peter | |
| 700 | 1 | _aDubbs, Holly | |
| 700 | 1 | _aDyment, David A | |
| 700 | 1 | _aEckhold, Juliane | |
| 700 | 1 | _aErnst, Sarah | |
| 700 | 1 | _aFerreira, Jose C | |
| 700 | 1 | _aFrancey, Lauren J | |
| 700 | 1 | _aGehlken, Ulrike | |
| 700 | 1 | _aGuillén-Navarro, Encarna | |
| 700 | 1 | _aGyftodimou, Yolanda | |
| 700 | 1 | _aHall, Bryan D | |
| 700 | 1 | _aHennekam, Raoul | |
| 700 | 1 | _aHudgins, Louanne | |
| 700 | 1 | _aHullings, Melanie | |
| 700 | 1 | _aHunter, Jennifer M | |
| 700 | 1 | _aYntema, Helger | |
| 700 | 1 | _aInnes, A Micheil | |
| 700 | 1 | _aKline, Antonie D | |
| 700 | 1 | _aKrumina, Zita | |
| 700 | 1 | _aLee, Hane | |
| 700 | 1 | _aLeppig, Kathleen | |
| 700 | 1 | _aLynch, Sally Ann | |
| 700 | 1 | _aMallozzi, Mark B | |
| 700 | 1 | _aMannini, Linda | |
| 700 | 1 | _aMcKee, Shane | |
| 700 | 1 | _aMehta, Sarju G | |
| 700 | 1 | _aMicule, Ieva | |
| 700 | 1 | _aMohammed, Shehla | |
| 700 | 1 | _aMoran, Ellen | |
| 700 | 1 | _aMortier, Geert R | |
| 700 | 1 | _aMoser, Joe-Ann S | |
| 700 | 1 | _aNoon, Sarah E | |
| 700 | 1 | _aNozaki, Naohito | |
| 700 | 1 | _aNunes, Luis | |
| 700 | 1 | _aPappas, John G | |
| 700 | 1 | _aPenney, Lynette S | |
| 700 | 1 | _aPérez-Aytés, Antonio | |
| 700 | 1 | _aPetersen, Michael B | |
| 700 | 1 | _aPuisac, Beatriz | |
| 700 | 1 | _aRevencu, Nicole | |
| 700 | 1 | _aRoeder, Elizabeth | |
| 700 | 1 | _aSaitta, Sulagna | |
| 700 | 1 | _aScheuerle, Angela E | |
| 700 | 1 | _aSchindeler, Karen L | |
| 700 | 1 | _aSiu, Victoria M | |
| 700 | 1 | _aStark, Zornitza | |
| 700 | 1 | _aStrom, Samuel P | |
| 700 | 1 | _aThiese, Heidi | |
| 700 | 1 | _aVater, Inga | |
| 700 | 1 | _aWillems, Patrick | |
| 700 | 1 | _aWilliamson, Kathleen | |
| 700 | 1 | _aWilson, Louise C | |
| 700 | 1 | _aHakonarson, Hakon | |
| 700 | 1 | _aQuintero-Rivera, Fabiola | |
| 700 | 1 | _aWierzba, Jolanta | |
| 700 | 1 | _aMusio, Antonio | |
| 700 | 1 | _aGillessen-Kaesbach, Gabriele | |
| 700 | 1 | _aRamos, Feliciano J | |
| 700 | 1 | _aJackson, Laird G | |
| 700 | 1 | _aShirahige, Katsuhiko | |
| 700 | 1 | _aPié, Juan | |
| 700 | 1 | _aChristianson, David W | |
| 700 | 1 | _aKrantz, Ian D | |
| 700 | 1 | _aFitzpatrick, David R | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 23 _gno. 11 _gp. 2888-900 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddu002 _zAvailable from publisher's website |
| 999 |
_c23429133 _d23429133 |
||