| 000 | 01780 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250515112705.0 | ||
| 264 | 0 | _c20080923 | |
| 008 | 200809s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/ejhg.2008.42 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTorniero, Claudia | |
| 245 | 0 | 0 |
_aDysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cAug 2008 |
||
| 300 |
_a880-7 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 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
| 650 | 0 | 4 |
_aFacial Bones _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Duplication |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aNucleic Acid Hybridization |
| 650 | 0 | 4 | _aOligonucleotide Array Sequence Analysis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aWilliams Syndrome _xdiagnosis |
| 700 | 1 | _aDalla Bernardina, Bernardo | |
| 700 | 1 | _aNovara, Francesca | |
| 700 | 1 | _aCerini, Roberto | |
| 700 | 1 | _aBonaglia, Clara | |
| 700 | 1 | _aPramparo, Tiziano | |
| 700 | 1 | _aCiccone, Roberto | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aZuffardi, Orsetta | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 16 _gno. 8 _gp. 880-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2008.42 _zAvailable from publisher's website |
| 999 |
_c17839511 _d17839511 |
||