Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Fernando Jose Martinez; Jeong Ho Lee; Ji Eun Lee; Sandra Blanco; Elizabeth Nickerson; Stacey Gabriel; Michaela Frye; Lihadh Al-Gazali; Joseph G Gleeson

doi:10.1136/jmedgenet-2011-100686

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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

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	Abstract	Full	Pdf
May 2012	697	131	133
Jun 2012	663	61	80
Jul 2012	356	53	51
Aug 2012	198	60	35
Sep 2012	157	63	35
Oct 2012	112	41	22
Nov 2012	105	38	34
Dec 2012	80	26	18
Jan 2013	135	49	29
Feb 2013	57	26	19
Mar 2013	82	27	27
Apr 2013	94	23	18
May 2013	61	26	26
Jun 2013	45	30	21
Jul 2013	43	20	14
Aug 2013	41	19	13
Sep 2013	32	17	11
Oct 2013	40	17	9
Nov 2013	42	29	18
Dec 2013	34	11	8
Jan 2014	20	19	14
Feb 2014	23	11	10
Mar 2014	49	25	22
Apr 2014	43	12	12
May 2014	36	21	21
Jun 2014	35	20	15
Jul 2014	41	4	6
Aug 2014	34	5	5
Sep 2014	26	10	8
Oct 2014	27	17	10
Nov 2014	25	7	5
Dec 2014	58	12	9
Jan 2015	32	7	10
Feb 2015	40	10	11
Mar 2015	32	4	8
Apr 2015	18	13	11
May 2015	38	27	6
Jun 2015	19	11	8
Jul 2015	15	15	15
Aug 2015	22	6	4
Sep 2015	40	5	4
Oct 2015	22	8	7
Nov 2015	18	6	7
Dec 2015	30	7	2
Jan 2016	42	12	6
Feb 2016	34	8	7
Mar 2016	39	9	4
Apr 2016	23	8	9
May 2016	36	3	4
Jun 2016	10	2	3
Jul 2016	32	3	6
Aug 2016	19	6	3
Sep 2016	35	5	9
Oct 2016	49	8	25
Nov 2016	124	3	5
Dec 2016	19	5	4
Jan 2017	19	7	4
Feb 2017	16	9	6
Mar 2017	44	6	5
Apr 2017	28	6	3
May 2017	37	1	1
Jun 2017	25	5	2
Jul 2017	74	4	1
Aug 2017	57	6	6
Sep 2017	56	8	6
Oct 2017	58	7	1
Nov 2017	106	7	4
Dec 2017	181	9	7
Jan 2018	137	11	6
Feb 2018	149	11	5
Mar 2018	148	16	5
Apr 2018	104	9	5
May 2018	94	6	7
Jun 2018	99	6	3
Jul 2018	81	9	6
Aug 2018	77	9	7
Sep 2018	50	4	6
Oct 2018	114	6	7
Nov 2018	130	5	2
Dec 2018	94	3	4
Jan 2019	80	4	4
Feb 2019	103	6	3
Mar 2019	95	5	2
Apr 2019	79	6	5
May 2019	99	11	8
Jun 2019	104	8	5
Jul 2019	89	13	5
Aug 2019	70	12	4
Sep 2019	69	16	6
Oct 2019	89	12	6
Nov 2019	88	10	9
Dec 2019	108	5	6
Jan 2020	125	15	5
Feb 2020	40	2	3
Mar 2020	77	3	3
Apr 2020	56	3	2
May 2020	97	3	2
Jun 2020	58	7	3
Jul 2020	63	7	3
Aug 2020	51	1	2
Sep 2020	99	9	4
Oct 2020	81	0	5
Nov 2020	77	7	4
Dec 2020	50	3	1
Jan 2021	70	4	5
Feb 2021	60	4	3
Mar 2021	100	12	1
Apr 2021	70	7	1
May 2021	26	4	1
Jun 2021	4	3	2
Jul 2021	12	12	1
Aug 2021	8	9	4
Sep 2021	8	10	2
Oct 2021	55	13	4
Nov 2021	52	8	3
Dec 2021	91	5	4
Jan 2022	73	8	8
Feb 2022	97	4	0
Mar 2022	94	7	2
Apr 2022	104	12	8
May 2022	118	10	7
Jun 2022	97	7	1
Jul 2022	82	9	5
Aug 2022	131	23	3
Sep 2022	82	13	6
Oct 2022	141	9	1
Nov 2022	92	8	5
Dec 2022	113	4	1
Jan 2023	75	4	1
Feb 2023	110	6	1
Mar 2023	147	6	2
Apr 2023	144	15	3
May 2023	84	5	3
Jun 2023	119	17	2
Jul 2023	92	7	31
Aug 2023	124	1	6
Sep 2023	136	10	7
Oct 2023	113	4	19
Nov 2023	92	1	1
Dec 2023	179	8	5
Jan 2024	166	6	19
Feb 2024	100	4	4
Mar 2024	157	9	3
Total	11822	1767	1330

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