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BMJ Journals
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Volume 56, Issue 4
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
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Neurogenetics
Short report
Homozygosity for the c.428delG variant in
KIAA0586
in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Online download statistics by month:
Online download statistics by month: August 2018 to October 2024
Abstract
Full
Pdf
Aug 2018
409
61
33
Sep 2018
142
34
18
Oct 2018
124
12
3
Nov 2018
131
14
13
Dec 2018
218
10
3
Jan 2019
217
18
8
Feb 2019
201
8
5
Mar 2019
410
35
16
Apr 2019
177
24
14
May 2019
154
30
16
Jun 2019
85
20
14
Jul 2019
120
23
16
Aug 2019
133
14
10
Sep 2019
82
6
2
Oct 2019
88
9
10
Nov 2019
80
15
10
Dec 2019
88
10
6
Jan 2020
105
13
8
Feb 2020
113
7
2
Mar 2020
73
3
4
Apr 2020
63
3
5
May 2020
68
10
4
Jun 2020
63
3
1
Jul 2020
51
7
6
Aug 2020
44
4
4
Sep 2020
67
2
4
Oct 2020
84
4
1
Nov 2020
48
0
2
Dec 2020
48
6
1
Jan 2021
74
2
3
Feb 2021
87
2
3
Mar 2021
37
7
6
Apr 2021
36
2
0
May 2021
22
1
1
Jun 2021
6
4
1
Jul 2021
6
5
5
Aug 2021
11
8
7
Sep 2021
3
2
0
Oct 2021
44
3
5
Nov 2021
46
4
4
Dec 2021
83
5
4
Jan 2022
44
10
5
Feb 2022
67
8
5
Mar 2022
61
4
2
Apr 2022
66
0
0
May 2022
104
6
1
Jun 2022
62
5
4
Jul 2022
88
6
1
Aug 2022
78
6
3
Sep 2022
82
5
4
Oct 2022
76
6
1
Nov 2022
78
12
7
Dec 2022
56
3
3
Jan 2023
34
4
1
Feb 2023
108
8
3
Mar 2023
31
2
3
Apr 2023
61
4
4
May 2023
47
8
1
Jun 2023
37
5
1
Jul 2023
68
3
3
Aug 2023
137
7
3
Sep 2023
51
2
1
Oct 2023
52
5
2
Nov 2023
48
8
1
Dec 2023
76
6
5
Jan 2024
46
2
2
Feb 2024
40
5
1
Mar 2024
80
10
1
Apr 2024
113
10
4
May 2024
49
5
1
Jun 2024
60
17
10
Jul 2024
78
6
2
Aug 2024
106
7
3
Sep 2024
62
5
3
Oct 2024
55
6
1
Total
6442
656
370
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