Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty; M A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; M Dorschner; A J van Essen; W A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Özyurek; I Phelps; P Rosenthal; A Verloes; H Weigand; P F Chance; W B Dobyns; I A Glass

doi:10.1136/jmg.2009.067249

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Original article

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

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	Abstract	Full	Pdf
Jul 2009	189	0	93
Aug 2009	210	0	46
Sep 2009	74	0	46
Oct 2009	98	0	24
Nov 2009	41	0	21
Dec 2009	25	0	29
Jan 2010	230	24	114
Feb 2010	100	27	30
Mar 2010	58	14	20
Apr 2010	48	17	25
May 2010	52	28	38
Jun 2010	44	13	17
Jul 2010	54	11	19
Aug 2010	68	34	25
Sep 2010	101	54	25
Oct 2010	50	36	24
Nov 2010	65	21	21
Dec 2010	77	9	13
Jan 2011	96	23	18
Feb 2011	72	22	13
Mar 2011	79	23	14
Apr 2011	61	27	21
May 2011	63	9	10
Jun 2011	55	13	10
Jul 2011	63	17	15
Aug 2011	29	10	11
Sep 2011	50	16	14
Oct 2011	54	17	11
Nov 2011	59	6	8
Dec 2011	93	14	9
Jan 2012	76	15	7
Feb 2012	65	23	18
Mar 2012	81	16	10
Apr 2012	68	18	10
May 2012	74	16	6
Jun 2012	92	9	7
Jul 2012	72	17	11
Aug 2012	57	10	7
Sep 2012	54	4	6
Oct 2012	83	21	3
Nov 2012	57	22	23
Dec 2012	58	3	8
Jan 2013	106	7	6
Feb 2013	53	5	4
Mar 2013	71	5	4
Apr 2013	63	5	7
May 2013	72	3	2
Jun 2013	43	2	2
Jul 2013	43	3	8
Aug 2013	32	5	1
Sep 2013	36	4	3
Oct 2013	39	7	7
Nov 2013	34	5	6
Dec 2013	28	1	2
Jan 2014	68	6	10
Feb 2014	26	4	0
Mar 2014	57	5	8
Apr 2014	33	9	7
May 2014	56	13	9
Jun 2014	33	5	4
Jul 2014	34	2	5
Aug 2014	38	1	0
Sep 2014	23	7	4
Oct 2014	24	7	5
Nov 2014	26	2	2
Dec 2014	27	4	6
Jan 2015	20	4	5
Feb 2015	26	6	4
Mar 2015	21	2	4
Apr 2015	27	3	2
May 2015	35	5	4
Jun 2015	28	5	6
Jul 2015	20	2	2
Aug 2015	33	9	7
Sep 2015	38	3	2
Oct 2015	27	4	5
Nov 2015	36	0	2
Dec 2015	46	1	1
Jan 2016	74	2	1
Feb 2016	38	6	4
Mar 2016	29	3	2
Apr 2016	22	9	9
May 2016	29	5	7
Jun 2016	33	6	2
Jul 2016	45	6	8
Aug 2016	36	2	3
Sep 2016	46	2	1
Oct 2016	32	7	4
Nov 2016	25	7	6
Dec 2016	17	4	1
Jan 2017	28	6	6
Feb 2017	30	8	11
Mar 2017	42	3	4
Apr 2017	32	5	5
May 2017	58	9	7
Jun 2017	54	6	2
Jul 2017	71	4	5
Aug 2017	59	7	2
Sep 2017	66	4	4
Oct 2017	89	6	7
Nov 2017	92	8	6
Dec 2017	44	7	3
Jan 2018	154	9	7
Feb 2018	67	4	3
Mar 2018	134	7	2
Apr 2018	88	4	3
May 2018	121	7	7
Jun 2018	93	4	0
Jul 2018	100	14	3
Aug 2018	91	15	7
Sep 2018	87	1	1
Oct 2018	105	4	2
Nov 2018	260	3	5
Dec 2018	112	3	4
Jan 2019	110	10	4
Feb 2019	98	5	4
Mar 2019	79	6	5
Apr 2019	68	6	5
May 2019	71	5	2
Jun 2019	41	1	1
Jul 2019	63	5	2
Aug 2019	36	1	2
Sep 2019	48	3	4
Oct 2019	40	7	4
Nov 2019	32	2	3
Dec 2019	66	5	3
Jan 2020	105	5	4
Feb 2020	45	3	1
Mar 2020	67	7	2
Apr 2020	52	4	4
May 2020	60	5	2
Jun 2020	51	4	3
Jul 2020	16	0	0
Aug 2020	11	1	1
Sep 2020	75	6	5
Oct 2020	102	4	5
Nov 2020	159	16	9
Dec 2020	85	6	3
Jan 2021	62	2	2
Feb 2021	90	6	8
Mar 2021	64	7	2
Apr 2021	30	5	2
May 2021	19	3	1
Jun 2021	8	6	2
Jul 2021	8	8	3
Aug 2021	3	5	1
Sep 2021	4	3	2
Oct 2021	54	9	3
Nov 2021	50	5	2
Dec 2021	88	1	5
Jan 2022	52	2	0
Feb 2022	71	9	3
Mar 2022	115	6	1
Apr 2022	122	3	2
May 2022	84	2	4
Jun 2022	72	9	2
Jul 2022	97	6	1
Aug 2022	107	7	2
Sep 2022	94	9	1
Oct 2022	102	10	5
Nov 2022	99	5	5
Dec 2022	65	3	1
Jan 2023	112	7	2
Feb 2023	116	0	0
Mar 2023	52	4	0
Apr 2023	48	3	3
May 2023	84	2	3
Jun 2023	72	3	1
Jul 2023	114	6	2
Aug 2023	72	2	2
Sep 2023	86	8	1
Oct 2023	128	6	3
Nov 2023	60	3	1
Dec 2023	73	5	3
Jan 2024	104	9	7
Feb 2024	70	6	2
Mar 2024	67	4	2
Total	11518	1343	1380

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