000 01666 a2200517 4500
005 20250517010020.0
264 0 _c20151218
008 201512s 0 0 eng d
022 _a1460-2407
024 7 _a10.1093/molehr/gau112
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aFilges, I
245 0 0 _aRecurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.
_h[electronic resource]
260 _bMolecular human reproduction
_cApr 2015
300 _a339-46 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormal Karyotype
650 0 4 _aAbortion, Habitual
_xdiagnosis
650 0 4 _aAdult
650 0 4 _aExome
650 0 4 _aFemale
650 0 4 _aGene Expression
650 0 4 _aGenetic Predisposition to Disease
650 0 4 _aGenotype
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHumans
650 0 4 _aMeiosis
650 0 4 _aMutation
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPhospholipase C delta
_xgenetics
650 0 4 _aPregnancy
650 0 4 _aReceptors, Steroid
_xgenetics
650 0 4 _aSequence Analysis, DNA
650 0 4 _aTriploidy
650 0 4 _aOxysterol Binding Proteins
700 1 _aManokhina, I
700 1 _aPeƱaherrera, M S
700 1 _aMcFadden, D E
700 1 _aLouie, K
700 1 _aNosova, E
700 1 _aFriedman, J M
700 1 _aRobinson, W P
773 0 _tMolecular human reproduction
_gvol. 21
_gno. 4
_gp. 339-46
856 4 0 _uhttps://doi.org/10.1093/molehr/gau112
_zAvailable from publisher's website
999 _c24456912
_d24456912