000 | 01513 a2200421 4500 | ||
---|---|---|---|
005 | 20250516230207.0 | ||
264 | 0 | _c20160516 | |
008 | 201605s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.36715 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aPebrel-Richard, Celine | |
245 | 0 | 0 |
_aRefinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cNov 2014 |
||
300 |
_a2964-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Duplication |
650 | 0 | 4 | _aChromosomes, Human, Pair 7 |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aCraniofacial Abnormalities _xdiagnosis |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aLanguage Development Disorders _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aRouzade, Charles | |
700 | 1 | _aKemeny, Stephan | |
700 | 1 | _aEymard-Pierre, Eleonore | |
700 | 1 | _aGay-Bellile, Mathilde | |
700 | 1 | _aGouas, Laetitia | |
700 | 1 | _aTchirkov, Andreï | |
700 | 1 | _aGoumy, Carole | |
700 | 1 | _aVago, Philippe | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 11 _gp. 2964-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36715 _zAvailable from publisher's website |
999 |
_c24099302 _d24099302 |