| 000 | 01663 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250514195835.0 | ||
| 264 | 0 | _c20041216 | |
| 008 | 200412s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/424698 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGillis, Lynette A | |
| 245 | 0 | 0 |
_aNIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cOct 2004 |
||
| 300 |
_a610-23 p. _bdigital |
||
| 500 | _aPublication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aCell Cycle Proteins |
| 650 | 0 | 4 |
_aConserved Sequence _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Genetic |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Alignment |
| 700 | 1 | _aMcCallum, Jennifer | |
| 700 | 1 | _aKaur, Maninder | |
| 700 | 1 | _aDeScipio, Cheryl | |
| 700 | 1 | _aYaeger, Dinah | |
| 700 | 1 | _aMariani, Allison | |
| 700 | 1 | _aKline, Antonie D | |
| 700 | 1 | _aLi, Hui-hua | |
| 700 | 1 | _aDevoto, Marcella | |
| 700 | 1 | _aJackson, Laird G | |
| 700 | 1 | _aKrantz, Ian D | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 75 _gno. 4 _gp. 610-23 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/424698 _zAvailable from publisher's website |
| 999 |
_c15016964 _d15016964 |
||