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Volume 50, Issue 11
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
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Original article
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss
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Abstract
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Pdf
Aug 2013
284
133
39
Sep 2013
179
153
43
Oct 2013
538
196
59
Nov 2013
245
77
21
Dec 2013
89
31
17
Jan 2014
151
42
22
Feb 2014
74
36
13
Mar 2014
64
37
12
Apr 2014
62
62
10
May 2014
34
39
6
Jun 2014
27
58
14
Jul 2014
27
15
5
Aug 2014
37
31
11
Sep 2014
40
30
11
Oct 2014
43
73
11
Nov 2014
26
21
7
Dec 2014
32
9
5
Jan 2015
25
17
5
Feb 2015
22
13
5
Mar 2015
33
17
13
Apr 2015
23
7
4
May 2015
22
20
10
Jun 2015
16
14
5
Jul 2015
12
21
3
Aug 2015
10
13
8
Sep 2015
18
9
4
Oct 2015
10
7
5
Nov 2015
19
10
6
Dec 2015
14
24
7
Jan 2016
16
11
5
Feb 2016
11
5
4
Mar 2016
21
16
13
Apr 2016
15
7
10
May 2016
11
11
6
Jun 2016
10
5
6
Jul 2016
14
13
12
Aug 2016
20
6
3
Sep 2016
23
1
8
Oct 2016
19
6
6
Nov 2016
13
8
6
Dec 2016
13
11
4
Jan 2017
13
10
5
Feb 2017
2
5
4
Mar 2017
4
15
8
Apr 2017
2
12
16
May 2017
4
18
9
Jun 2017
10
19
6
Jul 2017
11
8
3
Aug 2017
20
20
7
Sep 2017
20
17
5
Oct 2017
28
20
7
Nov 2017
55
37
11
Dec 2017
35
25
4
Jan 2018
40
32
7
Feb 2018
32
23
4
Mar 2018
37
28
9
Apr 2018
31
28
5
May 2018
43
40
11
Jun 2018
46
36
16
Jul 2018
28
24
15
Aug 2018
31
27
7
Sep 2018
19
19
9
Oct 2018
30
22
7
Nov 2018
30
21
15
Dec 2018
20
18
4
Jan 2019
36
27
9
Feb 2019
49
37
7
Mar 2019
29
29
9
Apr 2019
19
17
9
May 2019
32
26
9
Jun 2019
7
7
7
Jul 2019
28
27
32
Aug 2019
27
26
7
Sep 2019
55
49
8
Oct 2019
25
26
15
Nov 2019
30
26
9
Dec 2019
18
18
12
Jan 2020
41
40
14
Feb 2020
21
18
6
Mar 2020
27
27
10
Apr 2020
12
9
8
May 2020
42
40
9
Jun 2020
16
15
2
Jul 2020
20
18
7
Aug 2020
22
22
21
Sep 2020
33
32
7
Oct 2020
44
40
5
Nov 2020
37
30
9
Dec 2020
45
37
12
Jan 2021
12
12
8
Feb 2021
27
27
8
Mar 2021
42
42
6
Apr 2021
19
19
11
May 2021
33
28
12
Jun 2021
27
27
9
Jul 2021
6
6
4
Aug 2021
20
21
16
Sep 2021
18
18
7
Oct 2021
33
27
23
Nov 2021
36
36
32
Dec 2021
14
12
8
Jan 2022
55
37
9
Feb 2022
52
35
12
Mar 2022
55
33
11
Apr 2022
48
30
9
May 2022
49
35
12
Jun 2022
46
32
36
Jul 2022
47
40
10
Aug 2022
56
38
15
Sep 2022
53
49
5
Oct 2022
67
47
22
Nov 2022
76
62
18
Dec 2022
39
30
9
Jan 2023
56
36
8
Feb 2023
94
58
21
Mar 2023
65
51
10
Apr 2023
24
22
23
May 2023
29
27
12
Jun 2023
39
39
2
Jul 2023
43
44
17
Aug 2023
34
31
26
Sep 2023
31
14
24
Oct 2023
54
34
7
Nov 2023
35
37
10
Dec 2023
42
36
10
Jan 2024
35
36
12
Feb 2024
34
34
14
Mar 2024
91
85
18
Total
5304
3809
1427
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