000 | 01968 a2200577 4500 | ||
---|---|---|---|
005 | 20250514230415.0 | ||
264 | 0 | _c20051027 | |
008 | 200510s 0 0 eng d | ||
022 | _a1018-4813 | ||
024 | 7 |
_a10.1038/sj.ejhg.5201448 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aGeneviève, David | |
245 | 0 | 0 |
_aPaternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cSep 2005 |
||
300 |
_a1033-9 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 | _aChromosome Mapping |
650 | 0 | 4 | _aChromosomes, Human, Pair 20 |
650 | 0 | 4 |
_aCytogenetic Analysis _xmethods |
650 | 0 | 4 |
_aFace _xabnormalities |
650 | 0 | 4 | _aFathers |
650 | 0 | 4 | _aFeeding Behavior |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenomic Imprinting _xgenetics |
650 | 0 | 4 |
_aGrowth Disorders _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 | _aPregnancy |
700 | 1 | _aSanlaville, Damien | |
700 | 1 | _aFaivre, Laurence | |
700 | 1 | _aKottler, Marie-Laure | |
700 | 1 | _aJambou, Marguerite | |
700 | 1 | _aGosset, Philippe | |
700 | 1 | _aBoustani-Samara, Dinane | |
700 | 1 | _aPinto, Graziella | |
700 | 1 | _aOzilou, Catherine | |
700 | 1 | _aAbeguilé, Geneviève | |
700 | 1 | _aMunnich, Arnold | |
700 | 1 | _aRomana, Serge | |
700 | 1 | _aRaoul, Odile | |
700 | 1 | _aCormier-Daire, Valérie | |
700 | 1 | _aVekemans, Michel | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 13 _gno. 9 _gp. 1033-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5201448 _zAvailable from publisher's website |
999 |
_c15576770 _d15576770 |