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Volume 51, Issue 2
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
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New disease loci
Short report
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit
BBIP1
(
BBS18
)
Online download statistics by month:
Online download statistics by month: September 2013 to April 2025
Abstract
Full
Pdf
Sep 2013
398
82
73
Oct 2013
202
36
24
Nov 2013
220
21
21
Dec 2013
230
35
27
Jan 2014
459
50
51
Feb 2014
305
30
31
Mar 2014
194
29
18
Apr 2014
165
15
15
May 2014
102
30
16
Jun 2014
61
24
15
Jul 2014
59
17
13
Aug 2014
34
8
1
Sep 2014
58
14
4
Oct 2014
59
14
10
Nov 2014
57
10
6
Dec 2014
58
11
6
Jan 2015
65
6
7
Feb 2015
28
12
4
Mar 2015
34
10
7
Apr 2015
40
7
4
May 2015
37
10
4
Jun 2015
19
16
12
Jul 2015
42
8
6
Aug 2015
38
7
7
Sep 2015
33
6
3
Oct 2015
22
8
2
Nov 2015
45
4
3
Dec 2015
46
5
4
Jan 2016
55
9
9
Feb 2016
27
5
3
Mar 2016
23
4
3
Apr 2016
31
9
0
May 2016
31
5
5
Jun 2016
30
4
2
Jul 2016
28
3
2
Aug 2016
26
2
3
Sep 2016
29
2
3
Oct 2016
43
5
2
Nov 2016
36
5
4
Dec 2016
20
2
1
Jan 2017
27
4
1
Feb 2017
35
0
3
Mar 2017
51
2
1
Apr 2017
44
6
1
May 2017
53
3
1
Jun 2017
34
7
2
Jul 2017
64
1
0
Aug 2017
65
9
5
Sep 2017
125
10
8
Oct 2017
91
4
1
Nov 2017
122
3
3
Dec 2017
73
9
4
Jan 2018
106
7
2
Feb 2018
85
3
5
Mar 2018
88
5
1
Apr 2018
85
3
3
May 2018
152
3
3
Jun 2018
132
3
3
Jul 2018
59
1
0
Aug 2018
104
4
0
Sep 2018
75
4
1
Oct 2018
74
7
2
Nov 2018
97
2
0
Dec 2018
75
11
3
Jan 2019
59
9
5
Feb 2019
71
2
1
Mar 2019
59
1
0
Apr 2019
64
24
0
May 2019
75
5
3
Jun 2019
51
3
3
Jul 2019
49
13
2
Aug 2019
49
5
1
Sep 2019
33
4
0
Oct 2019
57
4
2
Nov 2019
36
5
1
Dec 2019
82
6
0
Jan 2020
66
7
1
Feb 2020
85
4
3
Mar 2020
43
4
0
Apr 2020
29
1
1
May 2020
61
5
3
Jun 2020
45
4
0
Jul 2020
25
0
1
Aug 2020
36
4
0
Sep 2020
83
5
2
Oct 2020
75
2
2
Nov 2020
83
1
1
Dec 2020
75
3
2
Jan 2021
67
2
0
Feb 2021
98
2
1
Mar 2021
48
2
3
Apr 2021
33
1
2
May 2021
22
1
1
Jun 2021
2
1
1
Jul 2021
3
3
2
Aug 2021
11
7
7
Sep 2021
2
1
0
Oct 2021
48
3
2
Nov 2021
58
4
2
Dec 2021
58
0
0
Jan 2022
91
5
3
Feb 2022
162
12
2
Mar 2022
199
3
1
Apr 2022
171
1
0
May 2022
137
3
2
Jun 2022
166
6
3
Jul 2022
191
5
3
Aug 2022
167
2
0
Sep 2022
191
13
3
Oct 2022
132
9
0
Nov 2022
154
0
0
Dec 2022
172
2
0
Jan 2023
185
2
1
Feb 2023
206
4
0
Mar 2023
222
4
2
Apr 2023
173
4
0
May 2023
199
3
1
Jun 2023
128
8
3
Jul 2023
124
4
0
Aug 2023
146
4
0
Sep 2023
72
0
0
Oct 2023
46
1
0
Nov 2023
62
4
0
Dec 2023
78
1
2
Jan 2024
149
4
13
Feb 2024
85
2
7
Mar 2024
57
0
0
Apr 2024
94
0
0
May 2024
165
3
1
Jun 2024
77
3
2
Jul 2024
88
3
3
Aug 2024
88
2
0
Sep 2024
92
5
2
Oct 2024
115
4
3
Nov 2024
85
4
1
Dec 2024
121
1
3
Jan 2025
124
12
2
Feb 2025
25
0
1
Mar 2025
13
3
0
Apr 2025
7
2
1
Total
12205
987
604
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