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Volume 45, Issue 9
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation
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Original article
Cerebro-oculo-facio-skeletal syndrome: three additional cases with
CSB
mutations, new diagnostic criteria and an approach to investigation
Online download statistics by month:
Online download statistics by month: July 2008 to March 2024
Abstract
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Jul 2008
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Aug 2008
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Sep 2008
100
45
80
Oct 2008
45
51
60
Nov 2008
53
53
28
Dec 2008
24
80
24
Jan 2009
29
60
32
Feb 2009
28
26
25
Mar 2009
42
30
22
Apr 2009
27
16
18
May 2009
30
17
15
Jun 2009
25
23
13
Jul 2009
16
18
11
Aug 2009
18
18
14
Sep 2009
23
24
21
Oct 2009
15
18
13
Nov 2009
29
9
15
Dec 2009
42
4
13
Jan 2010
22
11
11
Feb 2010
25
10
14
Mar 2010
22
13
18
Apr 2010
31
21
17
May 2010
7
10
13
Jun 2010
26
14
11
Jul 2010
35
12
9
Aug 2010
44
8
9
Sep 2010
87
22
15
Oct 2010
80
20
7
Nov 2010
57
22
13
Dec 2010
44
11
6
Jan 2011
42
9
7
Feb 2011
99
22
19
Mar 2011
75
24
16
Apr 2011
86
19
11
May 2011
47
18
9
Jun 2011
48
21
13
Jul 2011
41
6
6
Aug 2011
40
11
9
Sep 2011
63
23
7
Oct 2011
46
18
9
Nov 2011
59
27
12
Dec 2011
59
31
11
Jan 2012
59
13
9
Feb 2012
47
16
4
Mar 2012
85
15
9
Apr 2012
112
14
5
May 2012
93
17
9
Jun 2012
97
24
9
Jul 2012
67
13
10
Aug 2012
54
21
6
Sep 2012
88
12
13
Oct 2012
84
19
9
Nov 2012
44
19
8
Dec 2012
49
11
10
Jan 2013
42
1
0
Feb 2013
54
12
12
Mar 2013
63
2
1
Apr 2013
37
5
3
May 2013
38
11
8
Jun 2013
21
4
4
Jul 2013
11
24
5
Aug 2013
28
7
7
Sep 2013
25
4
2
Oct 2013
19
13
9
Nov 2013
17
8
9
Dec 2013
44
4
5
Jan 2014
25
2
1
Feb 2014
17
9
11
Mar 2014
19
6
7
Apr 2014
19
8
6
May 2014
19
2
1
Jun 2014
8
3
3
Jul 2014
16
14
6
Aug 2014
7
7
8
Sep 2014
7
5
3
Oct 2014
13
4
5
Nov 2014
15
7
6
Dec 2014
12
4
5
Jan 2015
16
4
3
Feb 2015
11
2
4
Mar 2015
6
4
1
Apr 2015
18
5
3
May 2015
12
0
0
Jun 2015
31
8
9
Jul 2015
12
2
1
Aug 2015
14
6
4
Sep 2015
18
3
3
Oct 2015
9
0
0
Nov 2015
16
6
4
Dec 2015
15
9
6
Jan 2016
18
9
10
Feb 2016
14
8
7
Mar 2016
8
3
2
Apr 2016
11
2
1
May 2016
18
1
2
Jun 2016
13
3
2
Jul 2016
14
8
9
Aug 2016
93
10
6
Sep 2016
15
7
6
Oct 2016
17
3
2
Nov 2016
18
7
5
Dec 2016
4
4
2
Jan 2017
19
9
8
Feb 2017
19
7
9
Mar 2017
48
2
3
Apr 2017
21
10
2
May 2017
28
7
4
Jun 2017
55
11
7
Jul 2017
61
3
4
Aug 2017
83
11
3
Sep 2017
126
3
5
Oct 2017
93
4
6
Nov 2017
122
5
5
Dec 2017
81
2
6
Jan 2018
99
10
12
Feb 2018
111
7
6
Mar 2018
108
7
3
Apr 2018
78
6
5
May 2018
116
3
1
Jun 2018
83
8
4
Jul 2018
137
1
2
Aug 2018
129
5
6
Sep 2018
99
1
3
Oct 2018
94
3
1
Nov 2018
156
8
1
Dec 2018
155
6
3
Jan 2019
138
5
7
Feb 2019
109
6
4
Mar 2019
122
4
8
Apr 2019
116
5
7
May 2019
54
8
5
Jun 2019
74
2
1
Jul 2019
67
4
2
Aug 2019
52
6
6
Sep 2019
33
4
2
Oct 2019
49
1
1
Nov 2019
29
2
2
Dec 2019
141
2
4
Jan 2020
54
6
4
Feb 2020
67
12
10
Mar 2020
59
0
4
Apr 2020
44
3
4
May 2020
49
1
3
Jun 2020
39
1
0
Jul 2020
61
1
3
Aug 2020
68
7
9
Sep 2020
75
2
5
Oct 2020
36
0
3
Nov 2020
99
4
3
Dec 2020
63
2
2
Jan 2021
49
4
5
Feb 2021
56
4
4
Mar 2021
65
3
5
Apr 2021
113
7
8
May 2021
31
1
4
Jun 2021
17
5
3
Jul 2021
12
1
1
Aug 2021
22
2
4
Sep 2021
17
4
0
Oct 2021
154
3
2
Nov 2021
86
2
0
Dec 2021
69
1
3
Jan 2022
62
3
0
Feb 2022
89
1
5
Mar 2022
116
2
4
Apr 2022
74
4
4
May 2022
118
3
1
Jun 2022
128
5
5
Jul 2022
85
9
5
Aug 2022
99
10
2
Sep 2022
130
7
10
Oct 2022
105
3
1
Nov 2022
116
2
5
Dec 2022
72
4
2
Jan 2023
86
1
3
Feb 2023
117
3
0
Mar 2023
96
1
1
Apr 2023
56
4
3
May 2023
105
2
1
Jun 2023
80
7
5
Jul 2023
67
2
2
Aug 2023
94
4
2
Sep 2023
78
4
2
Oct 2023
91
5
2
Nov 2023
95
3
5
Dec 2023
219
4
4
Jan 2024
137
2
2
Feb 2024
109
9
5
Mar 2024
97
11
3
Total
10876
1748
1395
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