000 | 01662 a2200469 4500 | ||
---|---|---|---|
005 | 20250516024230.0 | ||
264 | 0 | _c20110928 | |
008 | 201109s 0 0 eng d | ||
022 | _a1878-0849 | ||
024 | 7 |
_a10.1016/j.ejmg.2011.02.002 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBusche, Andreas | |
245 | 0 | 0 |
_aMicrodeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature. _h[electronic resource] |
260 |
_bEuropean journal of medical genetics _c |
||
300 |
_a256-61 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aChromosomes, Human, Pair 7 _xgenetics |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aFace _xabnormalities |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGrowth Disorders _xpathology |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 | _aKaryotyping |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrocephaly _xpathology |
650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 |
_aTwist-Related Protein 1 _xgenetics |
700 | 1 | _aGraul-Neumann, Luitgard M | |
700 | 1 | _aZweier, Christiane | |
700 | 1 | _aRauch, Anita | |
700 | 1 | _aKlopocki, Eva | |
700 | 1 | _aHorn, Denise | |
773 | 0 |
_tEuropean journal of medical genetics _gvol. 54 _gno. 3 _gp. 256-61 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2011.02.002 _zAvailable from publisher's website |
999 |
_c20610376 _d20610376 |