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Volume 40, Issue 11
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
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This article has a correction. Please see:
CORRECTION - January 01, 2004
PDF
Online mutation report
High incidence of the R276X
SALL1
mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case
Online download statistics by month:
Online download statistics by month: November 2003 to March 2024
Abstract
Full
Pdf
Nov 2003
0
45
22
Dec 2003
0
104
27
Jan 2004
0
35
18
Feb 2004
0
23
7
Mar 2004
0
20
7
Apr 2004
0
35
5
May 2004
0
38
9
Jun 2004
0
27
14
Jul 2004
0
37
12
Aug 2004
0
69
10
Sep 2004
0
39
9
Oct 2004
8
32
2
Nov 2004
8
33
10
Dec 2004
6
31
12
Jan 2005
12
50
18
Feb 2005
8
33
6
Mar 2005
9
25
9
Apr 2005
4
30
12
May 2005
2
40
14
Jun 2005
2
48
17
Jul 2005
10
43
22
Aug 2005
3
36
19
Sep 2005
2
26
7
Oct 2005
5
27
7
Nov 2005
15
36
10
Dec 2005
3
27
3
Jan 2006
3
21
5
Feb 2006
1
30
16
Mar 2006
2
28
8
Apr 2006
0
18
8
May 2006
9
15
10
Jun 2006
3
16
6
Jul 2006
1
10
8
Aug 2006
6
17
9
Sep 2006
2
21
11
Oct 2006
1
23
8
Nov 2006
1
23
15
Dec 2006
0
18
7
Jan 2007
0
23
9
Feb 2007
5
26
7
Mar 2007
0
22
8
Apr 2007
10
5
3
May 2007
16
5
5
Jun 2007
14
6
4
Jul 2007
5
8
3
Aug 2007
16
5
4
Sep 2007
5
5
2
Oct 2007
7
6
4
Nov 2007
4
3
2
Dec 2007
6
2
2
Jan 2008
5
3
2
Feb 2008
8
4
2
Mar 2008
10
6
5
Apr 2008
12
4
2
May 2008
3
2
0
Jun 2008
6
4
3
Jul 2008
3
1
0
Aug 2008
8
1
0
Sep 2008
4
2
3
Oct 2008
2
4
4
Nov 2008
8
1
0
Dec 2008
3
4
1
Jan 2009
0
2
4
Feb 2009
10
2
1
Mar 2009
8
0
0
Apr 2009
2
1
1
May 2009
2
3
1
Jun 2009
3
1
0
Jul 2009
13
6
2
Aug 2009
9
2
2
Sep 2009
1
2
2
Oct 2009
4
4
0
Nov 2009
3
2
0
Dec 2009
4
3
3
Jan 2010
1
0
1
Feb 2010
1
0
0
Mar 2010
3
2
0
Apr 2010
6
2
0
May 2010
0
2
2
Jun 2010
3
0
7
Jul 2010
6
1
0
Aug 2010
5
1
1
Sep 2010
15
10
0
Oct 2010
9
7
0
Nov 2010
10
1
0
Dec 2010
7
1
1
Jan 2011
11
0
0
Feb 2011
7
2
0
Mar 2011
11
3
2
Apr 2011
6
2
0
May 2011
9
0
0
Jun 2011
11
4
0
Jul 2011
30
0
1
Aug 2011
6
4
2
Sep 2011
16
0
0
Oct 2011
26
3
2
Nov 2011
15
9
3
Dec 2011
4
13
2
Jan 2012
2
25
3
Feb 2012
0
12
7
Mar 2012
2
13
5
Apr 2012
3
17
6
May 2012
8
22
5
Jun 2012
5
21
2
Jul 2012
5
30
2
Aug 2012
9
18
4
Sep 2012
8
17
1
Oct 2012
8
20
6
Nov 2012
0
19
5
Dec 2012
0
15
5
Jan 2013
0
22
0
Feb 2013
0
13
7
Mar 2013
0
7
3
Apr 2013
0
8
7
May 2013
0
7
6
Jun 2013
3
4
5
Jul 2013
6
10
0
Aug 2013
7
5
0
Sep 2013
2
2
2
Oct 2013
9
13
4
Nov 2013
3
20
1
Dec 2013
3
3
0
Jan 2014
7
3
3
Feb 2014
14
10
6
Mar 2014
20
17
3
Apr 2014
23
11
3
May 2014
29
13
7
Jun 2014
35
5
2
Jul 2014
27
9
1
Aug 2014
7
8
0
Sep 2014
5
6
5
Oct 2014
5
12
2
Nov 2014
4
7
2
Dec 2014
5
4
1
Jan 2015
3
4
4
Feb 2015
3
4
6
Mar 2015
7
3
2
Apr 2015
4
4
0
May 2015
6
15
0
Jun 2015
4
8
1
Jul 2015
5
8
2
Aug 2015
1
8
2
Sep 2015
7
7
6
Oct 2015
6
4
1
Nov 2015
6
4
1
Dec 2015
4
7
1
Jan 2016
8
3
1
Feb 2016
1
6
1
Mar 2016
3
9
4
Apr 2016
5
0
10
May 2016
10
8
7
Jun 2016
0
3
2
Jul 2016
8
4
3
Aug 2016
4
1
2
Sep 2016
7
2
1
Oct 2016
5
9
1
Nov 2016
6
1
0
Dec 2016
5
2
0
Jan 2017
6
2
2
Feb 2017
0
6
1
Mar 2017
3
10
2
Apr 2017
2
11
4
May 2017
0
14
2
Jun 2017
2
15
4
Jul 2017
14
14
0
Aug 2017
19
15
0
Sep 2017
19
19
2
Oct 2017
12
12
2
Nov 2017
57
54
3
Dec 2017
78
74
6
Jan 2018
93
93
2
Feb 2018
49
47
2
Mar 2018
106
98
2
Apr 2018
26
26
2
May 2018
54
52
4
Jun 2018
33
31
3
Jul 2018
13
11
2
Aug 2018
41
35
7
Sep 2018
21
21
3
Oct 2018
63
63
3
Nov 2018
85
83
1
Dec 2018
49
49
3
Jan 2019
42
41
1
Feb 2019
35
35
7
Mar 2019
14
13
8
Apr 2019
5
3
8
May 2019
6
6
2
Jun 2019
6
6
4
Jul 2019
4
4
2
Aug 2019
10
10
4
Sep 2019
5
5
3
Oct 2019
6
7
2
Nov 2019
5
5
6
Dec 2019
7
7
8
Jan 2020
12
12
7
Feb 2020
9
7
5
Mar 2020
3
3
2
Apr 2020
2
2
3
May 2020
11
9
2
Jun 2020
6
6
4
Jul 2020
10
10
4
Aug 2020
6
6
11
Sep 2020
14
14
16
Oct 2020
22
20
5
Nov 2020
17
14
1
Dec 2020
25
21
2
Jan 2021
9
9
3
Feb 2021
13
11
3
Mar 2021
19
17
8
Apr 2021
2
2
3
May 2021
5
5
4
Jun 2021
5
5
5
Jul 2021
3
3
6
Aug 2021
8
9
4
Sep 2021
11
11
5
Oct 2021
8
8
10
Nov 2021
13
13
14
Dec 2021
31
31
10
Jan 2022
34
34
2
Feb 2022
43
43
4
Mar 2022
59
59
7
Apr 2022
42
42
5
May 2022
52
52
12
Jun 2022
75
73
6
Jul 2022
75
72
8
Aug 2022
73
73
3
Sep 2022
53
52
17
Oct 2022
31
29
7
Nov 2022
77
77
10
Dec 2022
44
44
4
Jan 2023
54
54
2
Feb 2023
72
69
1
Mar 2023
69
69
4
Apr 2023
55
53
2
May 2023
50
50
6
Jun 2023
58
58
1
Jul 2023
60
60
5
Aug 2023
72
66
5
Sep 2023
10
8
3
Oct 2023
16
18
12
Nov 2023
12
12
88
Dec 2023
33
1
15
Jan 2024
45
0
0
Feb 2024
28
0
1
Mar 2024
110
6
1
Total
3601
4467
1198
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