000 01796 a2200529 4500
005 20250515231100.0
264 0 _c20110302
008 201103s 0 0 eng d
022 _a1476-5438
024 7 _a10.1038/ejhg.2010.102
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDuker, Angela L
245 0 0 _aPaternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cNov 2010
300 _a1196-201 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChromosome Breakpoints
650 0 4 _aChromosome Deletion
650 0 4 _aChromosomes, Human, Pair 15
_xgenetics
650 0 4 _aComparative Genomic Hybridization
650 0 4 _aFathers
650 0 4 _aGenotype
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aMale
650 0 4 _aMultigene Family
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aPrader-Willi Syndrome
_xgenetics
650 0 4 _aRNA, Small Nucleolar
_xgenetics
700 1 _aBallif, Blake C
700 1 _aBawle, Erawati V
700 1 _aPerson, Richard E
700 1 _aMahadevan, Sangeetha
700 1 _aAlliman, Sarah
700 1 _aThompson, Regina
700 1 _aTraylor, Ryan
700 1 _aBejjani, Bassem A
700 1 _aShaffer, Lisa G
700 1 _aRosenfeld, Jill A
700 1 _aLamb, Allen N
700 1 _aSahoo, Trilochan
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 18
_gno. 11
_gp. 1196-201
856 4 0 _uhttps://doi.org/10.1038/ejhg.2010.102
_zAvailable from publisher's website
999 _c19935641
_d19935641