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