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Volume 46, Issue 5
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
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Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations
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May 2009
130
135
71
Jun 2009
57
203
22
Jul 2009
22
204
22
Aug 2009
33
269
24
Sep 2009
18
26
17
Oct 2009
11
13
17
Nov 2009
32
19
16
Dec 2009
28
0
11
Jan 2010
25
14
13
Feb 2010
16
2
6
Mar 2010
16
5
3
Apr 2010
11
16
10
May 2010
13
5
10
Jun 2010
14
7
8
Jul 2010
22
7
9
Aug 2010
19
10
9
Sep 2010
41
7
5
Oct 2010
39
15
8
Nov 2010
39
12
17
Dec 2010
20
9
6
Jan 2011
23
11
7
Feb 2011
24
12
8
Mar 2011
33
11
3
Apr 2011
36
6
7
May 2011
19
9
6
Jun 2011
23
17
14
Jul 2011
12
2
2
Aug 2011
18
4
3
Sep 2011
29
1
5
Oct 2011
19
1
1
Nov 2011
33
3
5
Dec 2011
41
2
1
Jan 2012
23
2
4
Feb 2012
17
4
2
Mar 2012
24
2
2
Apr 2012
25
4
0
May 2012
42
10
13
Jun 2012
20
2
3
Jul 2012
16
2
5
Aug 2012
15
1
3
Sep 2012
25
7
2
Oct 2012
20
4
4
Nov 2012
38
11
7
Dec 2012
13
4
4
Jan 2013
26
5
6
Feb 2013
15
1
1
Mar 2013
15
1
1
Apr 2013
14
3
5
May 2013
21
3
2
Jun 2013
18
6
3
Jul 2013
9
10
3
Aug 2013
7
2
1
Sep 2013
12
2
2
Oct 2013
6
3
2
Nov 2013
10
2
2
Dec 2013
11
3
3
Jan 2014
8
1
0
Feb 2014
5
4
6
Mar 2014
17
2
2
Apr 2014
15
2
1
May 2014
12
1
1
Jun 2014
10
0
0
Jul 2014
12
5
5
Aug 2014
7
2
3
Sep 2014
9
5
5
Oct 2014
9
4
3
Nov 2014
4
3
2
Dec 2014
4
2
2
Jan 2015
7
0
1
Feb 2015
28
5
2
Mar 2015
17
6
7
Apr 2015
13
5
9
May 2015
17
4
4
Jun 2015
13
1
1
Jul 2015
7
5
5
Aug 2015
9
2
1
Sep 2015
20
7
6
Oct 2015
15
5
1
Nov 2015
23
4
4
Dec 2015
14
9
7
Jan 2016
18
3
2
Feb 2016
7
3
2
Mar 2016
14
4
10
Apr 2016
18
3
1
May 2016
8
4
2
Jun 2016
9
3
0
Jul 2016
14
7
3
Aug 2016
8
4
4
Sep 2016
17
1
4
Oct 2016
18
4
5
Nov 2016
29
2
6
Dec 2016
28
4
2
Jan 2017
18
8
5
Feb 2017
25
3
1
Mar 2017
70
11
2
Apr 2017
44
4
1
May 2017
20
9
4
Jun 2017
38
3
1
Jul 2017
42
13
11
Aug 2017
53
4
2
Sep 2017
63
7
1
Oct 2017
59
6
3
Nov 2017
60
4
4
Dec 2017
48
5
3
Jan 2018
64
5
2
Feb 2018
49
9
4
Mar 2018
78
7
2
Apr 2018
48
2
3
May 2018
67
9
4
Jun 2018
65
7
2
Jul 2018
53
3
4
Aug 2018
46
9
4
Sep 2018
31
1
1
Oct 2018
43
6
7
Nov 2018
45
1
0
Dec 2018
51
4
3
Jan 2019
42
9
0
Feb 2019
59
7
5
Mar 2019
43
3
3
Apr 2019
17
1
1
May 2019
36
5
2
Jun 2019
39
5
4
Jul 2019
56
4
3
Aug 2019
20
1
2
Sep 2019
20
3
0
Oct 2019
53
4
4
Nov 2019
48
5
3
Dec 2019
33
2
1
Jan 2020
71
6
2
Feb 2020
31
3
1
Mar 2020
32
10
1
Apr 2020
57
3
2
May 2020
36
5
4
Jun 2020
33
1
1
Jul 2020
47
6
2
Aug 2020
28
7
2
Sep 2020
38
4
2
Oct 2020
60
3
2
Nov 2020
40
3
6
Dec 2020
30
2
0
Jan 2021
95
1
2
Feb 2021
38
1
1
Mar 2021
71
4
5
Apr 2021
22
6
3
May 2021
19
4
4
Jun 2021
7
4
3
Jul 2021
2
2
0
Aug 2021
2
1
3
Sep 2021
4
3
0
Oct 2021
25
7
6
Nov 2021
69
3
0
Dec 2021
60
1
1
Jan 2022
39
5
2
Feb 2022
47
3
2
Mar 2022
105
6
6
Apr 2022
70
0
0
May 2022
110
12
15
Jun 2022
79
4
0
Jul 2022
34
2
1
Aug 2022
59
5
2
Sep 2022
69
1
0
Oct 2022
73
6
1
Nov 2022
99
7
7
Dec 2022
20
2
2
Jan 2023
36
5
4
Feb 2023
80
1
0
Mar 2023
161
3
2
Apr 2023
24
2
1
May 2023
21
1
0
Jun 2023
22
6
5
Jul 2023
30
0
0
Aug 2023
54
1
1
Sep 2023
26
1
0
Oct 2023
27
3
3
Nov 2023
40
0
0
Dec 2023
30
1
2
Jan 2024
27
1
0
Feb 2024
37
3
3
Mar 2024
33
1
0
Total
5856
1638
779
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