SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

E Pasmant; A Sabbagh; N Hanna; J Masliah-Planchon; E Jolly; P Goussard; P Ballerini; F Cartault; S Barbarot; J Landman-Parker; N Soufir; B Parfait; M Vidaud; P Wolkenstein; D Vidaud; R N F France

doi:10.1136/jmg.2008.065243

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SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

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	Abstract	Full	Pdf
Apr 2009	135	0	73
May 2009	115	0	83
Jun 2009	116	0	51
Jul 2009	634	459	219
Aug 2009	477	368	89
Sep 2009	266	317	79
Oct 2009	56	256	66
Nov 2009	49	52	64
Dec 2009	48	22	45
Jan 2010	25	49	33
Feb 2010	13	42	36
Mar 2010	31	28	25
Apr 2010	35	42	36
May 2010	56	45	56
Jun 2010	24	39	24
Jul 2010	26	45	23
Aug 2010	48	116	38
Sep 2010	51	142	47
Oct 2010	30	201	47
Nov 2010	18	148	27
Dec 2010	15	98	27
Jan 2011	25	159	25
Feb 2011	27	169	28
Mar 2011	17	182	29
Apr 2011	11	141	26
May 2011	15	103	17
Jun 2011	20	81	26
Jul 2011	24	56	23
Aug 2011	14	70	28
Sep 2011	17	59	25
Oct 2011	22	58	29
Nov 2011	38	84	33
Dec 2011	28	88	20
Jan 2012	32	79	21
Feb 2012	28	81	17
Mar 2012	21	71	26
Apr 2012	25	93	16
May 2012	32	96	21
Jun 2012	9	48	11
Jul 2012	26	48	16
Aug 2012	30	40	11
Sep 2012	21	49	13
Oct 2012	36	62	18
Nov 2012	41	55	17
Dec 2012	39	20	10
Jan 2013	57	32	20
Feb 2013	33	28	14
Mar 2013	37	29	12
Apr 2013	31	17	7
May 2013	30	23	12
Jun 2013	14	19	9
Jul 2013	23	9	7
Aug 2013	15	10	2
Sep 2013	10	17	10
Oct 2013	24	15	11
Nov 2013	17	20	13
Dec 2013	9	11	5
Jan 2014	12	5	8
Feb 2014	8	20	5
Mar 2014	16	21	12
Apr 2014	25	17	10
May 2014	15	10	8
Jun 2014	12	14	7
Jul 2014	12	11	5
Aug 2014	8	8	7
Sep 2014	14	8	7
Oct 2014	14	13	7
Nov 2014	12	10	8
Dec 2014	5	17	5
Jan 2015	16	37	16
Feb 2015	15	22	9
Mar 2015	15	39	7
Apr 2015	12	16	7
May 2015	10	11	7
Jun 2015	13	12	6
Jul 2015	8	15	5
Aug 2015	13	11	7
Sep 2015	16	10	1
Oct 2015	19	10	11
Nov 2015	19	33	4
Dec 2015	39	19	2
Jan 2016	39	21	7
Feb 2016	17	24	4
Mar 2016	33	5	13
Apr 2016	10	4	9
May 2016	13	6	4
Jun 2016	13	3	2
Jul 2016	17	8	8
Aug 2016	21	7	9
Sep 2016	29	10	5
Oct 2016	11	9	8
Nov 2016	17	5	5
Dec 2016	7	14	5
Jan 2017	11	9	7
Feb 2017	11	9	2
Mar 2017	10	22	4
Apr 2017	4	22	1
May 2017	1	30	6
Jun 2017	13	30	8
Jul 2017	19	14	4
Aug 2017	34	27	2
Sep 2017	40	29	5
Oct 2017	46	28	10
Nov 2017	44	32	6
Dec 2017	27	21	4
Jan 2018	109	104	6
Feb 2018	97	87	2
Mar 2018	148	136	7
Apr 2018	35	27	1
May 2018	62	46	7
Jun 2018	62	52	4
Jul 2018	55	23	0
Aug 2018	39	31	7
Sep 2018	41	37	7
Oct 2018	65	63	3
Nov 2018	64	60	1
Dec 2018	74	69	6
Jan 2019	68	64	6
Feb 2019	54	50	8
Mar 2019	44	43	6
Apr 2019	19	17	9
May 2019	26	20	12
Jun 2019	32	32	5
Jul 2019	59	55	5
Aug 2019	15	7	3
Sep 2019	30	24	3
Oct 2019	36	32	11
Nov 2019	17	13	2
Dec 2019	51	40	5
Jan 2020	26	25	2
Feb 2020	47	42	6
Mar 2020	38	36	10
Apr 2020	22	18	4
May 2020	20	14	4
Jun 2020	57	55	6
Jul 2020	18	15	3
Aug 2020	13	11	5
Sep 2020	66	62	9
Oct 2020	22	19	8
Nov 2020	24	22	7
Dec 2020	34	34	7
Jan 2021	38	24	6
Feb 2021	23	21	9
Mar 2021	42	36	12
Apr 2021	30	27	8
May 2021	23	23	24
Jun 2021	29	27	8
Jul 2021	15	15	5
Aug 2021	17	18	10
Sep 2021	23	25	15
Oct 2021	31	21	23
Nov 2021	21	15	15
Dec 2021	13	13	7
Jan 2022	35	32	9
Feb 2022	37	35	16
Mar 2022	33	28	9
Apr 2022	38	38	17
May 2022	53	43	20
Jun 2022	38	31	8
Jul 2022	23	19	5
Aug 2022	43	36	7
Sep 2022	31	29	17
Oct 2022	57	40	7
Nov 2022	36	34	8
Dec 2022	25	16	7
Jan 2023	40	33	16
Feb 2023	39	39	8
Mar 2023	46	36	8
Apr 2023	33	25	14
May 2023	24	20	19
Jun 2023	15	14	1
Jul 2023	24	17	10
Aug 2023	32	26	10
Sep 2023	37	31	6
Oct 2023	27	21	7
Nov 2023	30	31	10
Dec 2023	74	62	4
Jan 2024	24	24	10
Feb 2024	13	14	17
Mar 2024	54	38	79
Total	6956	8031	2813

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