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BMJ Journals
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Volume 51, Issue 3
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
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New loci
Original article
A splice donor mutation in
NAA10
results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
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Online download statistics by month: January 2014 to October 2024
Abstract
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Pdf
Jan 2014
279
180
120
Feb 2014
474
118
81
Mar 2014
275
112
59
Apr 2014
119
104
36
May 2014
83
42
21
Jun 2014
55
38
19
Jul 2014
47
24
14
Aug 2014
46
24
19
Sep 2014
34
20
22
Oct 2014
41
52
16
Nov 2014
44
35
15
Dec 2014
19
30
24
Jan 2015
23
13
14
Feb 2015
24
7
6
Mar 2015
21
20
10
Apr 2015
27
13
9
May 2015
22
13
10
Jun 2015
21
7
12
Jul 2015
29
8
4
Aug 2015
22
11
13
Sep 2015
39
26
11
Oct 2015
19
6
8
Nov 2015
31
6
12
Dec 2015
29
6
6
Jan 2016
21
13
5
Feb 2016
37
4
1
Mar 2016
17
8
9
Apr 2016
18
8
17
May 2016
21
16
9
Jun 2016
13
7
8
Jul 2016
51
9
10
Aug 2016
20
6
8
Sep 2016
23
4
8
Oct 2016
24
7
6
Nov 2016
38
10
8
Dec 2016
18
2
9
Jan 2017
26
10
7
Feb 2017
16
9
8
Mar 2017
29
9
13
Apr 2017
26
11
7
May 2017
37
7
3
Jun 2017
19
12
3
Jul 2017
30
10
11
Aug 2017
48
14
7
Sep 2017
71
17
4
Oct 2017
50
28
6
Nov 2017
45
16
4
Dec 2017
45
16
3
Jan 2018
53
18
3
Feb 2018
45
10
4
Mar 2018
116
26
11
Apr 2018
65
17
12
May 2018
41
14
3
Jun 2018
81
10
5
Jul 2018
65
20
11
Aug 2018
57
6
6
Sep 2018
33
7
1
Oct 2018
81
10
11
Nov 2018
101
4
4
Dec 2018
94
5
9
Jan 2019
99
5
5
Feb 2019
77
4
16
Mar 2019
58
1
3
Apr 2019
48
4
9
May 2019
41
6
13
Jun 2019
44
1
9
Jul 2019
46
9
14
Aug 2019
42
2
11
Sep 2019
68
3
7
Oct 2019
90
12
14
Nov 2019
97
6
15
Dec 2019
45
4
1
Jan 2020
84
6
6
Feb 2020
43
2
4
Mar 2020
84
4
7
Apr 2020
33
1
3
May 2020
40
1
7
Jun 2020
52
6
3
Jul 2020
40
9
26
Aug 2020
23
9
21
Sep 2020
41
3
5
Oct 2020
32
1
13
Nov 2020
49
0
4
Dec 2020
42
4
8
Jan 2021
26
1
5
Feb 2021
51
1
3
Mar 2021
66
2
4
Apr 2021
133
1
6
May 2021
20
7
3
Jun 2021
9
9
7
Jul 2021
4
4
3
Aug 2021
3
5
8
Sep 2021
7
3
9
Oct 2021
35
7
4
Nov 2021
96
3
8
Dec 2021
54
2
6
Jan 2022
38
6
1
Feb 2022
44
2
4
Mar 2022
84
9
38
Apr 2022
72
7
2
May 2022
85
9
0
Jun 2022
77
3
5
Jul 2022
42
4
3
Aug 2022
84
12
1
Sep 2022
55
2
2
Oct 2022
51
1
1
Nov 2022
50
2
2
Dec 2022
34
3
3
Jan 2023
99
4
1
Feb 2023
115
2
5
Mar 2023
28
2
1
Apr 2023
32
6
5
May 2023
48
4
3
Jun 2023
32
2
1
Jul 2023
34
2
2
Aug 2023
19
0
6
Sep 2023
37
6
5
Oct 2023
34
2
4
Nov 2023
64
4
5
Dec 2023
145
13
5
Jan 2024
97
16
14
Feb 2024
72
5
5
Mar 2024
96
5
3
Apr 2024
71
6
8
May 2024
118
4
4
Jun 2024
51
6
3
Jul 2024
55
4
4
Aug 2024
94
8
4
Sep 2024
79
5
189
Oct 2024
53
2
187
Total
7409
1631
1631
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