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Volume 36, Issue 4
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
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Original article
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
Online download statistics by month:
Online download statistics by month: October 1999 to March 2024
Abstract
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Oct 1999
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2
14
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3
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0
1
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Aug 2000
1
3
5
Sep 2000
1
1
3
Oct 2000
0
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2
Nov 2000
0
4
3
Dec 2000
1
2
4
Jan 2001
1
0
3
Mar 2001
0
0
1
Apr 2001
4
7
1
May 2001
0
7
2
Jun 2001
1
1
2
Jul 2001
0
1
0
Aug 2001
2
2
1
Sep 2001
3
3
1
Oct 2001
4
7
0
Nov 2001
1
1
0
Dec 2001
0
1
0
Jan 2002
2
7
2
Feb 2002
1
4
3
Mar 2002
1
2
1
Apr 2002
3
3
6
May 2002
0
7
1
Jun 2002
0
1
0
Jul 2002
0
2
0
Aug 2002
5
5
2
Sep 2002
3
4
1
Oct 2002
1
6
0
Nov 2002
1
8
1
Dec 2002
2
4
0
Jan 2003
3
8
1
Feb 2003
4
7
4
Mar 2003
4
12
7
Apr 2003
2
8
3
May 2003
1
5
2
Jun 2003
0
3
0
Jul 2003
6
10
2
Aug 2003
11
8
1
Sep 2003
12
16
1
Oct 2003
11
14
2
Nov 2003
13
17
3
Dec 2003
12
23
8
Jan 2004
20
30
2
Feb 2004
11
11
3
Mar 2004
18
30
0
Apr 2004
20
22
5
May 2004
42
50
5
Jun 2004
52
52
6
Jul 2004
59
63
6
Aug 2004
46
55
8
Sep 2004
31
54
9
Oct 2004
20
30
4
Nov 2004
20
34
11
Dec 2004
17
24
7
Jan 2005
14
51
4
Feb 2005
9
31
3
Mar 2005
13
18
5
Apr 2005
5
19
7
May 2005
6
13
1
Jun 2005
1
9
5
Jul 2005
6
14
6
Aug 2005
9
16
13
Sep 2005
2
16
20
Oct 2005
4
14
7
Nov 2005
3
19
6
Dec 2005
6
13
3
Jan 2006
4
20
5
Feb 2006
4
25
7
Mar 2006
7
24
7
Apr 2006
4
21
8
May 2006
2
17
7
Jun 2006
1
9
6
Jul 2006
1
8
7
Aug 2006
4
8
7
Sep 2006
3
12
10
Oct 2006
5
8
3
Nov 2006
4
5
6
Dec 2006
9
9
1
Jan 2007
6
11
5
Feb 2007
6
20
11
Mar 2007
1
12
6
Apr 2007
6
4
8
May 2007
7
1
2
Jun 2007
4
1
2
Jul 2007
3
4
3
Aug 2007
3
7
3
Sep 2007
4
9
7
Oct 2007
3
2
5
Nov 2007
10
0
2
Dec 2007
8
2
2
Jan 2008
4
2
4
Feb 2008
5
3
4
Mar 2008
9
4
7
Apr 2008
6
0
1
May 2008
4
3
3
Jun 2008
6
0
2
Jul 2008
1
1
0
Aug 2008
9
1
0
Sep 2008
13
3
3
Oct 2008
2
2
1
Nov 2008
6
4
3
Dec 2008
2
3
1
Jan 2009
3
1
6
Feb 2009
8
2
1
Mar 2009
8
3
0
Apr 2009
4
4
2
May 2009
7
1
1
Jun 2009
3
2
1
Jul 2009
5
1
1
Aug 2009
6
4
3
Sep 2009
10
1
3
Oct 2009
10
1
3
Nov 2009
4
3
3
Dec 2009
5
0
1
Jan 2010
12
2
3
Feb 2010
1
1
0
Mar 2010
6
1
2
Apr 2010
5
3
0
May 2010
12
2
3
Jun 2010
8
3
5
Jul 2010
7
3
1
Aug 2010
2
0
1
Sep 2010
3
3
0
Oct 2010
5
0
1
Nov 2010
4
2
1
Dec 2010
4
0
1
Jan 2011
9
1
2
Feb 2011
4
2
1
Mar 2011
10
2
1
Apr 2011
10
1
1
May 2011
6
3
4
Jun 2011
3
2
2
Jul 2011
15
1
1
Aug 2011
13
3
0
Sep 2011
7
2
1
Oct 2011
8
2
1
Nov 2011
9
4
2
Dec 2011
13
6
5
Jan 2012
10
3
1
Feb 2012
4
2
0
Mar 2012
6
7
1
Apr 2012
14
10
4
May 2012
6
5
3
Jun 2012
4
3
4
Jul 2012
7
10
6
Aug 2012
13
9
2
Sep 2012
8
8
3
Oct 2012
7
12
0
Nov 2012
10
5
4
Dec 2012
7
5
2
Jan 2013
26
10
6
Feb 2013
5
9
8
Mar 2013
11
10
4
Apr 2013
13
7
6
May 2013
19
20
20
Jun 2013
12
6
4
Jul 2013
32
5
1
Aug 2013
57
3
2
Sep 2013
6
13
3
Oct 2013
12
9
4
Nov 2013
12
16
12
Dec 2013
4
8
10
Jan 2014
10
9
7
Feb 2014
6
14
4
Mar 2014
12
18
5
Apr 2014
15
38
10
May 2014
6
25
6
Jun 2014
11
22
4
Jul 2014
15
21
13
Aug 2014
11
23
6
Sep 2014
4
7
3
Oct 2014
6
20
5
Nov 2014
4
19
3
Dec 2014
4
10
5
Jan 2015
8
11
4
Feb 2015
4
3
3
Mar 2015
8
9
4
Apr 2015
7
5
1
May 2015
5
7
5
Jun 2015
4
7
4
Jul 2015
2
8
4
Aug 2015
5
13
3
Sep 2015
4
15
10
Oct 2015
1
5
3
Nov 2015
5
8
5
Dec 2015
13
8
10
Jan 2016
6
18
8
Feb 2016
5
3
5
Mar 2016
13
21
11
Apr 2016
4
6
2
May 2016
10
4
13
Jun 2016
6
11
3
Jul 2016
4
10
8
Aug 2016
3
6
1
Sep 2016
15
7
6
Oct 2016
7
19
7
Nov 2016
8
14
5
Dec 2016
3
13
1
Jan 2017
2
6
5
Feb 2017
5
14
4
Mar 2017
1
9
5
Apr 2017
1
11
4
May 2017
3
10
4
Jun 2017
7
14
4
Jul 2017
25
22
3
Aug 2017
25
21
2
Sep 2017
26
18
6
Oct 2017
22
12
3
Nov 2017
28
22
6
Dec 2017
7
7
0
Jan 2018
23
19
3
Feb 2018
16
8
4
Mar 2018
25
21
7
Apr 2018
18
8
2
May 2018
24
21
12
Jun 2018
23
13
4
Jul 2018
12
8
8
Aug 2018
15
13
9
Sep 2018
12
10
3
Oct 2018
16
12
5
Nov 2018
14
10
3
Dec 2018
11
11
3
Jan 2019
14
12
2
Feb 2019
17
15
7
Mar 2019
29
22
4
Apr 2019
21
17
1
May 2019
18
12
7
Jun 2019
5
5
0
Jul 2019
18
14
4
Aug 2019
20
20
3
Sep 2019
22
18
5
Oct 2019
14
10
4
Nov 2019
25
16
8
Dec 2019
18
14
7
Jan 2020
21
21
2
Feb 2020
33
31
5
Mar 2020
8
8
12
Apr 2020
18
18
1
May 2020
19
14
5
Jun 2020
17
10
8
Jul 2020
12
12
3
Aug 2020
21
21
13
Sep 2020
24
24
8
Oct 2020
16
12
4
Nov 2020
12
12
5
Dec 2020
15
13
6
Jan 2021
25
23
9
Feb 2021
11
11
2
Mar 2021
18
15
12
Apr 2021
20
12
5
May 2021
6
5
1
Jun 2021
11
11
4
Jul 2021
9
9
10
Aug 2021
12
11
8
Sep 2021
12
12
6
Oct 2021
12
10
8
Nov 2021
24
18
7
Dec 2021
14
12
3
Jan 2022
14
10
5
Feb 2022
16
16
2
Mar 2022
17
15
6
Apr 2022
38
24
6
May 2022
35
31
6
Jun 2022
29
29
5
Jul 2022
38
33
8
Aug 2022
38
35
6
Sep 2022
49
48
8
Oct 2022
37
37
8
Nov 2022
22
21
7
Dec 2022
35
25
10
Jan 2023
26
25
10
Feb 2023
44
42
11
Mar 2023
16
16
4
Apr 2023
18
11
9
May 2023
45
21
12
Jun 2023
18
12
4
Jul 2023
15
14
7
Aug 2023
24
16
10
Sep 2023
15
13
9
Oct 2023
24
22
7
Nov 2023
15
15
3
Dec 2023
44
8
3
Jan 2024
23
1
0
Feb 2024
25
0
0
Mar 2024
35
13
1
Total
3272
3338
1256
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