000 | 01965 a2200565 4500 | ||
---|---|---|---|
005 | 20250516145229.0 | ||
264 | 0 | _c20160415 | |
008 | 201604s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.35887 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aWinberg, Johanna | |
245 | 0 | 0 |
_aPartial tetrasomy 14 associated with multiple malformations. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cJun 2013 |
||
300 |
_a1284-90 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 | _aChild |
650 | 0 | 4 |
_aChromosomes, Human, Pair 14 _xgenetics |
650 | 0 | 4 |
_aCleft Lip _xgenetics |
650 | 0 | 4 |
_aColoboma _xgenetics |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aCraniosynostoses _xgenetics |
650 | 0 | 4 |
_aElectron Transport Complex I _xdeficiency |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGastrointestinal Diseases _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 | _aKaryotyping |
650 | 0 | 4 |
_aMicrosatellite Repeats _xgenetics |
650 | 0 | 4 |
_aMitochondrial Diseases _xmetabolism |
650 | 0 | 4 | _aModels, Genetic |
650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
650 | 0 | 4 |
_aSeizures _xgenetics |
650 | 0 | 4 | _aSweden |
650 | 0 | 4 |
_aTetrasomy _xgenetics |
700 | 1 | _aLagerstedt Robinson, Kristina | |
700 | 1 | _aNaess, Karin | |
700 | 1 | _aLesko, Nicole | |
700 | 1 | _aWibom, Rolf | |
700 | 1 | _aLiedén, Agne | |
700 | 1 | _aAnderlid, Britt-Marie | |
700 | 1 | _aGraff, Caroline | |
700 | 1 | _aNordenskjöld, Agneta | |
700 | 1 | _aNordgren, Ann | |
700 | 1 | _aGustavsson, Peter | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 6 _gp. 1284-90 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35887 _zAvailable from publisher's website |
999 |
_c22695486 _d22695486 |