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Volume 49, Issue 2
Genotype–phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures
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Genotype-phenotype correlations
Original article
Genotype–phenotype correlation in
CC2D2A
-related Joubert syndrome reveals an association with ventriculomegaly and seizures
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Online download statistics by month: January 2012 to November 2024
Abstract
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Jan 2012
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Feb 2012
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Mar 2012
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Apr 2012
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May 2012
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Jun 2012
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22
18
Jul 2012
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11
9
Aug 2012
69
10
7
Sep 2012
58
17
5
Oct 2012
115
12
7
Nov 2012
77
24
12
Dec 2012
76
15
11
Jan 2013
146
10
5
Feb 2013
80
7
7
Mar 2013
59
8
6
Apr 2013
73
22
15
May 2013
59
16
8
Jun 2013
44
10
8
Jul 2013
53
6
6
Aug 2013
22
16
11
Sep 2013
34
16
6
Oct 2013
62
9
11
Nov 2013
28
10
6
Dec 2013
28
1
2
Jan 2014
29
8
4
Feb 2014
43
10
11
Mar 2014
47
9
8
Apr 2014
61
7
8
May 2014
50
7
4
Jun 2014
32
5
7
Jul 2014
31
2
3
Aug 2014
38
6
2
Sep 2014
21
6
5
Oct 2014
22
6
5
Nov 2014
30
7
4
Dec 2014
28
7
5
Jan 2015
29
6
8
Feb 2015
32
7
10
Mar 2015
22
1
9
Apr 2015
29
6
7
May 2015
22
6
6
Jun 2015
19
5
3
Jul 2015
23
13
10
Aug 2015
21
7
8
Sep 2015
46
5
5
Oct 2015
24
4
2
Nov 2015
30
6
4
Dec 2015
39
7
6
Jan 2016
44
6
1
Feb 2016
31
2
6
Mar 2016
29
7
5
Apr 2016
51
5
2
May 2016
14
9
9
Jun 2016
22
3
3
Jul 2016
26
5
3
Aug 2016
21
9
5
Sep 2016
36
7
5
Oct 2016
26
7
5
Nov 2016
18
14
9
Dec 2016
31
7
5
Jan 2017
28
12
8
Feb 2017
44
12
11
Mar 2017
33
10
8
Apr 2017
24
3
0
May 2017
49
6
2
Jun 2017
48
8
3
Jul 2017
69
7
4
Aug 2017
81
10
7
Sep 2017
83
7
4
Oct 2017
92
9
5
Nov 2017
87
11
6
Dec 2017
101
10
6
Jan 2018
56
4
2
Feb 2018
60
5
2
Mar 2018
97
9
7
Apr 2018
138
9
6
May 2018
83
6
6
Jun 2018
82
8
3
Jul 2018
56
2
2
Aug 2018
59
6
5
Sep 2018
74
8
5
Oct 2018
82
5
5
Nov 2018
52
1
1
Dec 2018
46
2
1
Jan 2019
113
29
12
Feb 2019
77
15
9
Mar 2019
54
6
5
Apr 2019
63
2
0
May 2019
83
13
4
Jun 2019
33
1
1
Jul 2019
46
4
3
Aug 2019
65
3
2
Sep 2019
47
6
2
Oct 2019
60
12
5
Nov 2019
65
18
2
Dec 2019
107
18
6
Jan 2020
66
13
15
Feb 2020
44
3
2
Mar 2020
68
15
6
Apr 2020
100
16
21
May 2020
77
3
7
Jun 2020
146
10
13
Jul 2020
55
11
10
Aug 2020
48
3
4
Sep 2020
50
5
3
Oct 2020
61
9
8
Nov 2020
68
12
12
Dec 2020
54
10
6
Jan 2021
91
12
7
Feb 2021
68
3
5
Mar 2021
97
9
7
Apr 2021
35
6
1
May 2021
33
8
5
Jun 2021
3
3
2
Jul 2021
7
7
5
Aug 2021
14
15
9
Sep 2021
10
11
5
Oct 2021
50
11
12
Nov 2021
64
8
9
Dec 2021
89
5
1
Jan 2022
41
3
0
Feb 2022
77
7
4
Mar 2022
78
10
4
Apr 2022
80
0
3
May 2022
132
11
7
Jun 2022
99
12
9
Jul 2022
59
9
3
Aug 2022
103
10
7
Sep 2022
94
14
5
Oct 2022
148
21
4
Nov 2022
189
20
8
Dec 2022
138
6
3
Jan 2023
89
8
2
Feb 2023
145
4
4
Mar 2023
148
8
6
Apr 2023
56
8
4
May 2023
63
10
4
Jun 2023
45
4
0
Jul 2023
71
5
4
Aug 2023
88
4
2
Sep 2023
106
5
5
Oct 2023
108
15
8
Nov 2023
140
17
6
Dec 2023
129
5
5
Jan 2024
111
15
11
Feb 2024
105
6
3
Mar 2024
93
16
8
Apr 2024
143
20
4
May 2024
76
10
6
Jun 2024
102
13
6
Jul 2024
112
14
9
Aug 2024
118
11
3
Sep 2024
93
11
5
Oct 2024
150
14
13
Nov 2024
151
16
6
Total
11105
1448
1029
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