000			02213 a2200673 4500
005			20250517085734.0
264		0	_c20160829
008			201608s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2016.02.010 _2doi
040			_aNLM _beng _cNLM
100	1		_aShaheen, Ranad
245	0	0	_aMutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. _h[electronic resource]
260			_bAmerican journal of human genetics _cApr 2016
300			_a643-52 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple _xgenetics
650	0	4	_aAdult
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aCase-Control Studies
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCodon, Nonsense
650	0	4	_aFemale
650	0	4	_aGene Expression Profiling
650	0	4	_aGene Expression Regulation
650	0	4	_aHumans
650	0	4	_aIntracellular Signaling Peptides and Proteins
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation
650	0	4	_aNonsense Mediated mRNA Decay _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhosphoproteins _xgenetics
650	0	4	_aPhosphorylation
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aRNA, Messenger
650	0	4	_aSaudi Arabia
700	1		_aAnazi, Shams
700	1		_aBen-Omran, Tawfeg
700	1		_aSeidahmed, Mohammed Zain
700	1		_aCaddle, L Brianna
700	1		_aPalmer, Kristina
700	1		_aAli, Rehab
700	1		_aAlshidi, Tarfa
700	1		_aHagos, Samya
700	1		_aGoodwin, Leslie
700	1		_aHashem, Mais
700	1		_aWakil, Salma M
700	1		_aAbouelhoda, Mohamed
700	1		_aColak, Dilek
700	1		_aMurray, Stephen A
700	1		_aAlkuraya, Fowzan S
773	0		_tAmerican journal of human genetics _gvol. 98 _gno. 4 _gp. 643-52
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2016.02.010 _zAvailable from publisher's website
999			_c25867511 _d25867511