| 000 | 03501 a2201177 4500 | ||
|---|---|---|---|
| 005 | 20250516230222.0 | ||
| 264 | 0 | _c20150518 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2014-102573 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAnsari, Morad | |
| 245 | 0 | 0 |
_aGenetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cOct 2014 |
||
| 300 |
_a659-68 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aDe Lange Syndrome _xgenetics |
| 650 | 0 | 4 |
_aFace _xpathology |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Heterogeneity |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aPoke, Gemma | |
| 700 | 1 | _aFerry, Quentin | |
| 700 | 1 | _aWilliamson, Kathleen | |
| 700 | 1 | _aAldridge, Roland | |
| 700 | 1 | _aMeynert, Alison M | |
| 700 | 1 | _aBengani, Hemant | |
| 700 | 1 | _aChan, Cheng Yee | |
| 700 | 1 | _aKayserili, Hülya | |
| 700 | 1 | _aAvci, Sahin | |
| 700 | 1 | _aHennekam, Raoul C M | |
| 700 | 1 | _aLampe, Anne K | |
| 700 | 1 | _aRedeker, Egbert | |
| 700 | 1 | _aHomfray, Tessa | |
| 700 | 1 | _aRoss, Alison | |
| 700 | 1 | _aFalkenberg Smeland, Marie | |
| 700 | 1 | _aMansour, Sahar | |
| 700 | 1 | _aParker, Michael J | |
| 700 | 1 | _aCook, Jacqueline A | |
| 700 | 1 | _aSplitt, Miranda | |
| 700 | 1 | _aFisher, Richard B | |
| 700 | 1 | _aFryer, Alan | |
| 700 | 1 | _aMagee, Alex C | |
| 700 | 1 | _aWilkie, Andrew | |
| 700 | 1 | _aBarnicoat, Angela | |
| 700 | 1 | _aBrady, Angela F | |
| 700 | 1 | _aCooper, Nicola S | |
| 700 | 1 | _aMercer, Catherine | |
| 700 | 1 | _aDeshpande, Charu | |
| 700 | 1 | _aBennett, Christopher P | |
| 700 | 1 | _aPilz, Daniela T | |
| 700 | 1 | _aRuddy, Deborah | |
| 700 | 1 | _aCilliers, Deirdre | |
| 700 | 1 | _aJohnson, Diana S | |
| 700 | 1 | _aJosifova, Dragana | |
| 700 | 1 | _aRosser, Elisabeth | |
| 700 | 1 | _aThompson, Elizabeth M | |
| 700 | 1 | _aWakeling, Emma | |
| 700 | 1 | _aKinning, Esther | |
| 700 | 1 | _aStewart, Fiona | |
| 700 | 1 | _aFlinter, Frances | |
| 700 | 1 | _aGirisha, Katta M | |
| 700 | 1 | _aCox, Helen | |
| 700 | 1 | _aFirth, Helen V | |
| 700 | 1 | _aKingston, Helen | |
| 700 | 1 | _aWee, Jamie S | |
| 700 | 1 | _aHurst, Jane A | |
| 700 | 1 | _aClayton-Smith, Jill | |
| 700 | 1 | _aTolmie, John | |
| 700 | 1 | _aVogt, Julie | |
| 700 | 1 | _aTatton-Brown, Katrina | |
| 700 | 1 | _aChandler, Kate | |
| 700 | 1 | _aPrescott, Katrina | |
| 700 | 1 | _aWilson, Louise | |
| 700 | 1 | _aBehnam, Mahdiyeh | |
| 700 | 1 | _aMcEntagart, Meriel | |
| 700 | 1 | _aDavidson, Rosemarie | |
| 700 | 1 | _aLynch, Sally-Ann | |
| 700 | 1 | _aSisodiya, Sanjay | |
| 700 | 1 | _aMehta, Sarju G | |
| 700 | 1 | _aMcKee, Shane A | |
| 700 | 1 | _aMohammed, Shehla | |
| 700 | 1 | _aHolden, Simon | |
| 700 | 1 | _aPark, Soo-Mi | |
| 700 | 1 | _aHolder, Susan E | |
| 700 | 1 | _aHarrison, Victoria | |
| 700 | 1 | _aMcConnell, Vivienne | |
| 700 | 1 | _aLam, Wayne K | |
| 700 | 1 | _aGreen, Andrew J | |
| 700 | 1 | _aDonnai, Dian | |
| 700 | 1 | _aBitner-Glindzicz, Maria | |
| 700 | 1 | _aDonnelly, Deirdre E | |
| 700 | 1 | _aNellåker, Christoffer | |
| 700 | 1 | _aTaylor, Martin S | |
| 700 | 1 | _aFitzPatrick, David R | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 51 _gno. 10 _gp. 659-68 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2014-102573 _zAvailable from publisher's website |
| 999 |
_c24100058 _d24100058 |
||