000 | 01919 a2200541 4500 | ||
---|---|---|---|
005 | 20250517051532.0 | ||
264 | 0 | _c20161017 | |
008 | 201610s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.37350 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aSchneider, Anouck | |
245 | 0 | 0 |
_aIdentification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cDec 2015 |
||
300 |
_a3031-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aChild |
650 | 0 | 4 |
_aChromosome Painting _xmethods |
650 | 0 | 4 | _aChromosomes, Human, Pair 3 |
650 | 0 | 4 | _aChromosomes, Human, Pair 7 |
650 | 0 | 4 | _aCytoskeletal Proteins |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aNeurodevelopmental Disorders _xgenetics |
650 | 0 | 4 | _aPregnancy |
650 | 0 | 4 |
_aProteins _xgenetics |
650 | 0 | 4 |
_aReceptor, EphA6 _xgenetics |
650 | 0 | 4 | _aTranscription Factors |
650 | 0 | 4 | _aTranslocation, Genetic |
700 | 1 | _aPuechberty, Jacques | |
700 | 1 | _aNg, Bee Ling | |
700 | 1 | _aCoubes, Christine | |
700 | 1 | _aGatinois, Vincent | |
700 | 1 | _aTournaire, Magali | |
700 | 1 | _aGirard, Manon | |
700 | 1 | _aDumont, Bruno | |
700 | 1 | _aBouret, Pauline | |
700 | 1 | _aMagnetto, Julia | |
700 | 1 | _aBaghdadli, Amaria | |
700 | 1 | _aPellestor, Franck | |
700 | 1 | _aGeneviève, David | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 167A _gno. 12 _gp. 3031-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.37350 _zAvailable from publisher's website |
999 |
_c25226067 _d25226067 |