| 000 | 02372 a2200769 4500 | ||
|---|---|---|---|
| 005 | 20250517225552.0 | ||
| 264 | 0 | _c20190716 | |
| 008 | 201907s 0 0 eng d | ||
| 022 | _a1471-0064 | ||
| 024 | 7 |
_a10.1038/s41576-018-0031-0 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKline, Antonie D | |
| 245 | 0 | 0 |
_aDiagnosis and management of Cornelia de Lange syndrome: first international consensus statement. _h[electronic resource] |
| 260 |
_bNature reviews. Genetics _c10 2018 |
||
| 300 |
_a649-666 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aConsensus |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aMoss, Joanna F | |
| 700 | 1 | _aSelicorni, Angelo | |
| 700 | 1 | _aBisgaard, Anne-Marie | |
| 700 | 1 | _aDeardorff, Matthew A | |
| 700 | 1 | _aGillett, Peter M | |
| 700 | 1 | _aIshman, Stacey L | |
| 700 | 1 | _aKerr, Lynne M | |
| 700 | 1 | _aLevin, Alex V | |
| 700 | 1 | _aMulder, Paul A | |
| 700 | 1 | _aRamos, Feliciano J | |
| 700 | 1 | _aWierzba, Jolanta | |
| 700 | 1 | _aAjmone, Paola Francesca | |
| 700 | 1 | _aAxtell, David | |
| 700 | 1 | _aBlagowidow, Natalie | |
| 700 | 1 | _aCereda, Anna | |
| 700 | 1 | _aCostantino, Antonella | |
| 700 | 1 | _aCormier-Daire, Valerie | |
| 700 | 1 | _aFitzPatrick, David | |
| 700 | 1 | _aGrados, Marco | |
| 700 | 1 | _aGroves, Laura | |
| 700 | 1 | _aGuthrie, Whitney | |
| 700 | 1 | _aHuisman, Sylvia | |
| 700 | 1 | _aKaiser, Frank J | |
| 700 | 1 | _aKoekkoek, Gerritjan | |
| 700 | 1 | _aLevis, Mary | |
| 700 | 1 | _aMariani, Milena | |
| 700 | 1 | _aMcCleery, Joseph P | |
| 700 | 1 | _aMenke, Leonie A | |
| 700 | 1 | _aMetrena, Amy | |
| 700 | 1 | _aO'Connor, Julia | |
| 700 | 1 | _aOliver, Chris | |
| 700 | 1 | _aPie, Juan | |
| 700 | 1 | _aPiening, Sigrid | |
| 700 | 1 | _aPotter, Carol J | |
| 700 | 1 | _aQuaglio, Ana L | |
| 700 | 1 | _aRedeker, Egbert | |
| 700 | 1 | _aRichman, David | |
| 700 | 1 | _aRigamonti, Claudia | |
| 700 | 1 | _aShi, Angell | |
| 700 | 1 | _aTümer, Zeynep | |
| 700 | 1 | _aVan Balkom, Ingrid D C | |
| 700 | 1 | _aHennekam, Raoul C | |
| 773 | 0 |
_tNature reviews. Genetics _gvol. 19 _gno. 10 _gp. 649-666 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41576-018-0031-0 _zAvailable from publisher's website |
| 999 |
_c28621705 _d28621705 |
||