Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

H M Harville; S Held; A Diaz-Font; E E Davis; B H Diplas; R A Lewis; Z U Borochowitz; W Zhou; M Chaki; J MacDonald; H Kayserili; P L Beales; N Katsanis; E Otto; F Hildebrandt

doi:10.1136/jmg.2009.071365

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

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	Abstract	Full	Pdf
Sep 2009	41	0	20
Oct 2009	182	0	114
Nov 2009	50	0	64
Dec 2009	48	0	53
Jan 2010	138	0	35
Feb 2010	106	0	42
Mar 2010	82	0	13
Apr 2010	160	8	37
May 2010	70	13	38
Jun 2010	73	19	36
Jul 2010	64	27	35
Aug 2010	45	7	12
Sep 2010	92	9	11
Oct 2010	53	11	14
Nov 2010	45	21	17
Dec 2010	68	12	12
Jan 2011	59	10	14
Feb 2011	41	14	5
Mar 2011	58	20	9
Apr 2011	46	9	4
May 2011	40	10	3
Jun 2011	46	5	3
Jul 2011	39	3	7
Aug 2011	28	6	12
Sep 2011	27	6	4
Oct 2011	55	4	3
Nov 2011	62	5	5
Dec 2011	58	3	3
Jan 2012	32	5	5
Feb 2012	20	1	1
Mar 2012	32	3	5
Apr 2012	40	4	7
May 2012	32	6	6
Jun 2012	33	2	4
Jul 2012	49	2	1
Aug 2012	32	2	1
Sep 2012	27	0	1
Oct 2012	27	1	4
Nov 2012	42	10	13
Dec 2012	31	5	1
Jan 2013	81	2	2
Feb 2013	24	4	3
Mar 2013	37	3	7
Apr 2013	77	1	0
May 2013	52	3	0
Jun 2013	35	1	2
Jul 2013	52	3	8
Aug 2013	44	1	10
Sep 2013	85	2	5
Oct 2013	56	1	3
Nov 2013	38	3	3
Dec 2013	33	0	0
Jan 2014	19	1	2
Feb 2014	16	1	1
Mar 2014	29	1	1
Apr 2014	24	3	2
May 2014	29	4	1
Jun 2014	20	2	4
Jul 2014	31	1	2
Aug 2014	18	2	0
Sep 2014	15	4	5
Oct 2014	11	3	1
Nov 2014	11	2	0
Dec 2014	6	4	4
Jan 2015	13	1	1
Feb 2015	9	3	3
Mar 2015	13	2	1
Apr 2015	7	0	0
May 2015	19	2	4
Jun 2015	20	1	4
Jul 2015	17	1	1
Aug 2015	10	1	0
Sep 2015	18	3	1
Oct 2015	13	2	0
Nov 2015	17	0	1
Dec 2015	29	11	5
Jan 2016	151	1	2
Feb 2016	23	1	3
Mar 2016	15	3	0
Apr 2016	14	4	5
May 2016	14	4	6
Jun 2016	33	3	4
Jul 2016	28	3	4
Aug 2016	11	2	3
Sep 2016	13	1	1
Oct 2016	29	1	0
Nov 2016	22	3	0
Dec 2016	20	1	1
Jan 2017	40	2	2
Feb 2017	24	1	1
Mar 2017	32	0	0
Apr 2017	60	2	0
May 2017	66	5	2
Jun 2017	31	7	3
Jul 2017	37	1	0
Aug 2017	78	0	0
Sep 2017	84	1	1
Oct 2017	116	1	1
Nov 2017	86	2	0
Dec 2017	41	1	0
Jan 2018	147	1	1
Feb 2018	78	1	2
Mar 2018	96	11	5
Apr 2018	61	2	5
May 2018	24	4	2
Jun 2018	34	2	0
Jul 2018	100	2	3
Aug 2018	32	4	2
Sep 2018	33	1	0
Oct 2018	50	4	3
Nov 2018	74	2	4
Dec 2018	56	0	1
Jan 2019	25	3	2
Feb 2019	53	4	3
Mar 2019	77	5	1
Apr 2019	31	1	0
May 2019	41	3	0
Jun 2019	28	2	1
Jul 2019	24	2	1
Aug 2019	18	1	1
Sep 2019	27	1	0
Oct 2019	38	1	2
Nov 2019	33	7	2
Dec 2019	29	1	1
Jan 2020	45	0	0
Feb 2020	33	0	0
Mar 2020	28	0	1
Apr 2020	42	2	1
May 2020	63	3	6
Jun 2020	38	1	0
Jul 2020	16	1	0
Aug 2020	57	0	0
Sep 2020	79	2	1
Oct 2020	102	2	2
Nov 2020	93	2	1
Dec 2020	43	3	4
Jan 2021	46	2	1
Feb 2021	80	0	2
Mar 2021	69	1	1
Apr 2021	12	0	0
May 2021	27	0	2
Jun 2021	10	4	2
Jul 2021	10	3	3
Aug 2021	6	3	1
Sep 2021	4	1	0
Oct 2021	20	0	0
Nov 2021	34	2	4
Dec 2021	48	2	3
Jan 2022	55	3	1
Feb 2022	46	1	4
Mar 2022	59	3	2
Apr 2022	56	0	0
May 2022	116	4	3
Jun 2022	74	4	2
Jul 2022	69	2	2
Aug 2022	106	2	1
Sep 2022	52	3	1
Oct 2022	61	3	0
Nov 2022	61	5	4
Dec 2022	37	0	1
Jan 2023	69	3	0
Feb 2023	93	3	2
Mar 2023	33	1	1
Apr 2023	22	5	2
May 2023	41	3	0
Jun 2023	29	3	1
Jul 2023	68	1	0
Aug 2023	29	0	0
Sep 2023	68	2	1
Oct 2023	276	1	0
Nov 2023	624	2	2
Dec 2023	127	4	4
Jan 2024	56	3	5
Feb 2024	87	0	10
Mar 2024	62	1	2
Apr 2024	63	1	0
May 2024	55	3	4
Jun 2024	36	0	0
Jul 2024	37	0	0
Aug 2024	59	0	0
Sep 2024	39	1	2
Total	9348	558	934

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