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Volume 40, Issue 4
Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
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Online mutation report
Novel
PHF6
mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome
Online download statistics by month:
Online download statistics by month: April 2003 to March 2024
Abstract
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Oct 2003
1
54
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Nov 2003
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Dec 2003
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21
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Jan 2004
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16
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Feb 2004
0
26
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25
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May 2004
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40
9
Jun 2004
0
48
10
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0
52
4
Aug 2004
2
78
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61
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Oct 2004
11
33
6
Nov 2004
11
35
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Dec 2004
8
27
10
Jan 2005
14
40
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Feb 2005
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6
Mar 2005
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41
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Apr 2005
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29
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May 2005
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24
Jun 2005
2
29
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Jul 2005
2
12
4
Aug 2005
2
19
9
Sep 2005
5
35
12
Oct 2005
3
26
9
Nov 2005
2
26
4
Dec 2005
3
18
10
Jan 2006
2
29
1
Feb 2006
3
20
1
Mar 2006
0
25
6
Apr 2006
1
22
3
May 2006
0
9
1
Jun 2006
3
14
3
Jul 2006
2
23
4
Aug 2006
3
16
7
Sep 2006
4
9
4
Oct 2006
4
27
7
Nov 2006
7
33
7
Dec 2006
1
20
4
Jan 2007
7
35
12
Feb 2007
1
18
8
Mar 2007
1
21
7
Apr 2007
9
12
0
May 2007
2
7
6
Jun 2007
8
3
1
Jul 2007
4
4
1
Aug 2007
4
1
1
Sep 2007
3
2
2
Oct 2007
6
7
5
Nov 2007
7
2
3
Dec 2007
9
2
2
Jan 2008
2
5
2
Feb 2008
9
7
5
Mar 2008
4
2
4
Apr 2008
3
6
3
May 2008
3
3
3
Jun 2008
14
2
1
Jul 2008
7
2
0
Aug 2008
8
3
3
Sep 2008
18
4
2
Oct 2008
6
1
0
Nov 2008
12
2
0
Dec 2008
13
3
2
Jan 2009
8
3
1
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8
2
1
Mar 2009
2
5
1
Apr 2009
3
2
1
May 2009
2
0
0
Jun 2009
4
3
2
Jul 2009
8
1
0
Aug 2009
8
1
2
Sep 2009
5
2
0
Oct 2009
2
3
0
Nov 2009
6
4
0
Dec 2009
5
1
0
Jan 2010
4
2
1
Feb 2010
4
5
1
Mar 2010
1
2
0
Apr 2010
12
3
1
May 2010
8
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Jun 2010
2
4
1
Jul 2010
17
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0
Aug 2010
25
7
7
Sep 2010
26
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0
Oct 2010
33
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1
Nov 2010
24
8
3
Dec 2010
33
13
3
Jan 2011
70
19
3
Feb 2011
61
7
1
Mar 2011
45
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1
Apr 2011
11
15
2
May 2011
37
8
2
Jun 2011
73
12
3
Jul 2011
123
3
1
Aug 2011
125
1
1
Sep 2011
102
5
0
Oct 2011
110
5
0
Nov 2011
90
5
3
Dec 2011
89
24
9
Jan 2012
94
61
7
Feb 2012
90
24
2
Mar 2012
72
25
2
Apr 2012
57
41
7
May 2012
71
29
4
Jun 2012
24
44
7
Jul 2012
25
45
4
Aug 2012
25
28
3
Sep 2012
21
26
6
Oct 2012
39
50
4
Nov 2012
0
64
4
Dec 2012
0
18
4
Jan 2013
0
31
2
Feb 2013
0
17
4
Mar 2013
0
24
5
Apr 2013
0
26
7
May 2013
0
22
7
Jun 2013
7
14
3
Jul 2013
11
14
0
Aug 2013
10
37
1
Sep 2013
4
39
3
Oct 2013
12
56
4
Nov 2013
15
22
0
Dec 2013
18
51
0
Jan 2014
10
51
1
Feb 2014
19
44
2
Mar 2014
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65
1
Apr 2014
18
53
4
May 2014
31
110
5
Jun 2014
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59
1
Jul 2014
14
67
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Aug 2014
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28
3
Sep 2014
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50
3
Oct 2014
22
21
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Nov 2014
11
21
7
Dec 2014
9
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2
Jan 2015
11
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1
Feb 2015
11
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3
Mar 2015
24
23
3
Apr 2015
6
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1
May 2015
4
15
0
Jun 2015
6
17
1
Jul 2015
7
15
1
Aug 2015
12
14
1
Sep 2015
12
8
1
Oct 2015
6
7
1
Nov 2015
16
9
3
Dec 2015
12
11
1
Jan 2016
13
14
1
Feb 2016
7
11
4
Mar 2016
7
24
8
Apr 2016
7
19
4
May 2016
2
13
1
Jun 2016
12
16
5
Jul 2016
9
21
2
Aug 2016
11
15
3
Sep 2016
11
13
6
Oct 2016
5
11
0
Nov 2016
10
11
1
Dec 2016
12
18
1
Jan 2017
26
9
2
Feb 2017
5
8
1
Mar 2017
4
11
1
Apr 2017
2
12
1
May 2017
2
26
1
Jun 2017
9
17
2
Jul 2017
9
8
1
Aug 2017
13
13
2
Sep 2017
23
25
3
Oct 2017
20
20
0
Nov 2017
57
57
10
Dec 2017
105
103
1
Jan 2018
108
108
0
Feb 2018
53
53
1
Mar 2018
119
105
1
Apr 2018
45
45
2
May 2018
41
40
1
Jun 2018
49
43
1
Jul 2018
26
26
1
Aug 2018
33
31
2
Sep 2018
34
34
0
Oct 2018
45
43
6
Nov 2018
42
42
3
Dec 2018
56
56
2
Jan 2019
62
60
3
Feb 2019
57
49
9
Mar 2019
32
29
1
Apr 2019
12
9
7
May 2019
23
25
2
Jun 2019
22
20
1
Jul 2019
14
14
1
Aug 2019
13
13
0
Sep 2019
17
17
3
Oct 2019
23
24
2
Nov 2019
17
17
4
Dec 2019
21
21
5
Jan 2020
34
34
5
Feb 2020
25
23
2
Mar 2020
13
11
2
Apr 2020
6
4
2
May 2020
16
10
1
Jun 2020
9
9
2
Jul 2020
10
10
5
Aug 2020
2
2
3
Sep 2020
27
23
3
Oct 2020
17
15
2
Nov 2020
22
22
5
Dec 2020
12
12
3
Jan 2021
17
12
2
Feb 2021
22
16
3
Mar 2021
18
16
4
Apr 2021
13
13
6
May 2021
6
6
2
Jun 2021
8
8
3
Jul 2021
6
6
1
Aug 2021
6
8
5
Sep 2021
10
10
1
Oct 2021
8
11
2
Nov 2021
12
12
2
Dec 2021
25
25
3
Jan 2022
28
28
0
Feb 2022
14
15
2
Mar 2022
32
33
3
Apr 2022
31
33
4
May 2022
30
27
1
Jun 2022
36
36
2
Jul 2022
12
12
4
Aug 2022
30
30
10
Sep 2022
29
27
5
Oct 2022
23
23
7
Nov 2022
18
17
2
Dec 2022
15
14
2
Jan 2023
14
12
2
Feb 2023
33
33
2
Mar 2023
14
14
2
Apr 2023
11
12
2
May 2023
14
14
6
Jun 2023
16
16
7
Jul 2023
15
15
8
Aug 2023
13
11
3
Sep 2023
17
18
1
Oct 2023
15
14
2
Nov 2023
27
30
1
Dec 2023
47
6
1
Jan 2024
52
1
0
Feb 2024
27
1
1
Mar 2024
124
2
1
Total
4811
5553
903
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