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BMJ Journals
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Volume 50, Issue 12
A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
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New loci
Short report
A novel mutation in
KIAA0196
: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort
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Online download statistics by month: September 2013 to April 2023
Abstract
Full
Pdf
Sep 2013
140
10
22
Oct 2013
190
28
30
Nov 2013
763
259
62
Dec 2013
312
23
27
Jan 2014
208
34
39
Feb 2014
139
11
15
Mar 2014
111
13
16
Apr 2014
70
14
14
May 2014
51
22
14
Jun 2014
29
18
18
Jul 2014
28
23
10
Aug 2014
21
5
5
Sep 2014
39
15
27
Oct 2014
20
27
14
Nov 2014
14
9
9
Dec 2014
25
6
3
Jan 2015
26
15
16
Feb 2015
8
11
7
Mar 2015
18
10
10
Apr 2015
11
8
6
May 2015
16
9
6
Jun 2015
14
21
8
Jul 2015
15
7
7
Aug 2015
14
12
14
Sep 2015
35
12
8
Oct 2015
6
6
8
Nov 2015
17
8
5
Dec 2015
38
6
11
Jan 2016
24
7
9
Feb 2016
12
7
5
Mar 2016
20
11
6
Apr 2016
11
8
3
May 2016
10
2
3
Jun 2016
13
7
6
Jul 2016
24
7
9
Aug 2016
15
8
6
Sep 2016
19
9
8
Oct 2016
28
4
2
Nov 2016
21
8
7
Dec 2016
13
9
8
Jan 2017
25
13
9
Feb 2017
20
9
5
Mar 2017
21
5
4
Apr 2017
14
13
8
May 2017
23
12
8
Jun 2017
34
16
8
Jul 2017
49
14
6
Aug 2017
84
18
11
Sep 2017
128
7
6
Oct 2017
52
14
5
Nov 2017
65
7
6
Dec 2017
71
19
9
Jan 2018
80
8
4
Feb 2018
102
5
4
Mar 2018
74
9
4
Apr 2018
73
12
6
May 2018
67
9
7
Jun 2018
89
13
7
Jul 2018
67
3
3
Aug 2018
57
7
3
Sep 2018
26
6
4
Oct 2018
75
7
7
Nov 2018
123
14
6
Dec 2018
70
8
6
Jan 2019
65
6
6
Feb 2019
77
3
5
Mar 2019
66
8
8
Apr 2019
62
9
13
May 2019
86
11
4
Jun 2019
57
8
2
Jul 2019
49
15
5
Aug 2019
55
5
2
Sep 2019
51
5
2
Oct 2019
131
7
6
Nov 2019
54
14
6
Dec 2019
44
8
6
Jan 2020
55
9
5
Feb 2020
79
10
11
Mar 2020
54
5
1
Apr 2020
55
4
2
May 2020
140
14
10
Jun 2020
85
12
10
Jul 2020
62
3
2
Aug 2020
21
3
0
Sep 2020
55
8
4
Oct 2020
49
5
2
Nov 2020
74
11
7
Dec 2020
50
8
4
Jan 2021
101
5
4
Feb 2021
54
1
0
Mar 2021
86
11
10
Apr 2021
107
1
1
May 2021
22
5
4
Jun 2021
3
2
2
Jul 2021
4
4
3
Aug 2021
6
5
3
Sep 2021
12
5
5
Oct 2021
132
9
11
Nov 2021
50
3
1
Dec 2021
59
1
0
Jan 2022
73
12
4
Feb 2022
53
7
5
Mar 2022
65
6
10
Apr 2022
132
20
7
May 2022
101
16
1
Jun 2022
125
5
1
Jul 2022
89
12
5
Aug 2022
85
7
2
Sep 2022
82
16
11
Oct 2022
183
26
8
Nov 2022
98
12
2
Dec 2022
57
11
6
Jan 2023
62
5
4
Feb 2023
141
14
6
Mar 2023
108
14
3
Apr 2023
68
5
1
Total
7811
1408
892
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