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Volume 41, Issue 9
SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
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Online mutation report
SALL4
deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
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Online download statistics by month: August 2004 to August 2024
Abstract
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Aug 2004
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Oct 2004
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Nov 2004
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Dec 2004
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Jan 2005
23
74
1
Feb 2005
31
80
6
Mar 2005
23
82
13
Apr 2005
23
43
12
May 2005
15
52
11
Jun 2005
17
68
20
Jul 2005
14
34
7
Aug 2005
13
36
5
Sep 2005
9
30
31
Oct 2005
6
41
19
Nov 2005
1
50
25
Dec 2005
7
28
3
Jan 2006
11
54
20
Feb 2006
5
30
16
Mar 2006
8
25
13
Apr 2006
1
16
9
May 2006
6
26
12
Jun 2006
9
25
9
Jul 2006
8
21
15
Aug 2006
8
31
12
Sep 2006
9
17
8
Oct 2006
8
17
4
Nov 2006
2
12
7
Dec 2006
1
31
19
Jan 2007
2
17
6
Feb 2007
10
21
9
Mar 2007
7
21
10
Apr 2007
24
13
9
May 2007
14
7
4
Jun 2007
13
9
7
Jul 2007
5
8
4
Aug 2007
11
8
6
Sep 2007
8
6
4
Oct 2007
4
3
7
Nov 2007
4
3
2
Dec 2007
7
3
1
Jan 2008
13
5
0
Feb 2008
7
6
10
Mar 2008
4
3
3
Apr 2008
4
4
5
May 2008
10
7
3
Jun 2008
6
5
3
Jul 2008
7
6
1
Aug 2008
7
8
4
Sep 2008
8
5
3
Oct 2008
10
6
4
Nov 2008
2
5
1
Dec 2008
3
5
5
Jan 2009
6
1
2
Feb 2009
4
4
4
Mar 2009
2
1
3
Apr 2009
3
6
2
May 2009
4
5
2
Jun 2009
5
4
0
Jul 2009
9
2
2
Aug 2009
7
4
2
Sep 2009
3
2
0
Oct 2009
6
4
1
Nov 2009
4
2
2
Dec 2009
7
2
6
Jan 2010
1
3
2
Feb 2010
1
2
0
Mar 2010
4
6
0
Apr 2010
8
2
0
May 2010
2
0
1
Jun 2010
1
1
0
Jul 2010
1
4
5
Aug 2010
4
7
2
Sep 2010
21
11
0
Oct 2010
9
3
2
Nov 2010
19
3
0
Dec 2010
1
2
0
Jan 2011
12
6
1
Feb 2011
16
4
0
Mar 2011
11
4
4
Apr 2011
6
2
4
May 2011
6
0
2
Jun 2011
4
2
3
Jul 2011
10
7
1
Aug 2011
4
0
3
Sep 2011
7
6
4
Oct 2011
10
0
2
Nov 2011
17
3
10
Dec 2011
10
19
3
Jan 2012
4
12
1
Feb 2012
1
11
2
Mar 2012
5
14
2
Apr 2012
6
20
2
May 2012
5
11
5
Jun 2012
3
14
1
Jul 2012
10
21
4
Aug 2012
7
20
3
Sep 2012
6
20
7
Oct 2012
13
26
2
Nov 2012
0
21
3
Dec 2012
0
8
1
Jan 2013
0
25
8
Feb 2013
0
14
7
Mar 2013
0
14
2
Apr 2013
0
11
7
May 2013
0
31
6
Jun 2013
2
7
0
Jul 2013
11
9
2
Aug 2013
8
9
1
Sep 2013
6
10
4
Oct 2013
5
8
0
Nov 2013
11
10
2
Dec 2013
3
10
3
Jan 2014
7
15
3
Feb 2014
7
4
0
Mar 2014
11
15
8
Apr 2014
7
13
2
May 2014
11
27
1
Jun 2014
6
11
1
Jul 2014
9
9
3
Aug 2014
7
10
1
Sep 2014
5
8
3
Oct 2014
5
20
4
Nov 2014
2
15
1
Dec 2014
4
9
0
Jan 2015
1
9
0
Feb 2015
5
3
4
Mar 2015
9
17
7
Apr 2015
4
18
1
May 2015
3
5
1
Jun 2015
0
5
0
Jul 2015
6
7
3
Aug 2015
3
12
0
Sep 2015
10
10
1
Oct 2015
2
4
3
Nov 2015
8
9
2
Dec 2015
6
6
0
Jan 2016
15
24
4
Feb 2016
3
46
0
Mar 2016
7
36
4
Apr 2016
2
3
2
May 2016
2
11
3
Jun 2016
8
17
4
Jul 2016
8
17
1
Aug 2016
6
9
0
Sep 2016
9
11
3
Oct 2016
13
32
3
Nov 2016
7
28
0
Dec 2016
5
33
0
Jan 2017
9
22
3
Feb 2017
0
7
1
Mar 2017
1
15
0
Apr 2017
0
13
2
May 2017
3
12
5
Jun 2017
2
16
18
Jul 2017
13
12
23
Aug 2017
11
11
3
Sep 2017
21
19
5
Oct 2017
43
37
2
Nov 2017
23
19
3
Dec 2017
14
12
4
Jan 2018
35
35
6
Feb 2018
27
21
7
Mar 2018
20
20
7
Apr 2018
25
21
7
May 2018
22
23
10
Jun 2018
27
21
15
Jul 2018
17
15
7
Aug 2018
50
44
13
Sep 2018
16
16
9
Oct 2018
75
75
3
Nov 2018
97
95
7
Dec 2018
90
90
7
Jan 2019
48
48
2
Feb 2019
50
46
4
Mar 2019
38
38
3
Apr 2019
19
20
7
May 2019
22
23
7
Jun 2019
15
15
4
Jul 2019
15
15
3
Aug 2019
13
11
6
Sep 2019
12
6
3
Oct 2019
20
20
9
Nov 2019
24
17
8
Dec 2019
16
12
6
Jan 2020
22
22
5
Feb 2020
13
9
40404
Mar 2020
12
8
8
Apr 2020
13
8
4
May 2020
11
11
4
Jun 2020
10
9
11
Jul 2020
8
8
1
Aug 2020
8
8
4
Sep 2020
16
14
1
Oct 2020
20
20
8
Nov 2020
15
13
5
Dec 2020
16
16
4
Jan 2021
19
16
2
Feb 2021
5
5
5
Mar 2021
16
16
4
Apr 2021
23
23
3
May 2021
12
12
3
Jun 2021
25
25
4
Jul 2021
15
15
4
Aug 2021
11
10
12
Sep 2021
13
15
10
Oct 2021
29
27
26
Nov 2021
20
16
17
Dec 2021
19
19
3
Jan 2022
31
33
5
Feb 2022
44
44
3
Mar 2022
60
56
5
Apr 2022
93
69
6
May 2022
75
71
2
Jun 2022
84
79
6
Jul 2022
67
67
3
Aug 2022
81
76
5
Sep 2022
59
53
4
Oct 2022
38
38
8
Nov 2022
71
70
4
Dec 2022
58
58
4
Jan 2023
91
79
6
Feb 2023
85
83
2
Mar 2023
62
62
9
Apr 2023
72
70
36
May 2023
66
62
5
Jun 2023
59
57
8
Jul 2023
57
53
7
Aug 2023
85
87
7
Sep 2023
20
20
4
Oct 2023
15
13
3
Nov 2023
14
13
1
Dec 2023
66
3
2
Jan 2024
55
2
2
Feb 2024
28
0
0
Mar 2024
139
1
0
Apr 2024
55
2
1
May 2024
82
2
0
Jun 2024
64
4
3
Jul 2024
58
3
1
Aug 2024
96
5
1
Total
4452
5278
41673
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