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Volume 43, Issue 3
Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient
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Short report
Mutation screening in Börjeson-Forssman-Lehmann syndrome: identification of a novel de novo
PHF6
mutation in a female patient
Online download statistics by month:
Online download statistics by month: July 2005 to March 2024
Abstract
Full
Pdf
Jul 2005
39
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52
Aug 2005
29
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24
Sep 2005
14
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13
Oct 2005
16
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25
Nov 2005
15
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16
Dec 2005
9
0
14
Jan 2006
11
0
6
Feb 2006
3
0
5
Mar 2006
57
20
36
Apr 2006
20
23
26
May 2006
10
9
14
Jun 2006
15
9
10
Jul 2006
10
5
5
Aug 2006
12
9
7
Sep 2006
20
8
4
Oct 2006
16
18
8
Nov 2006
13
7
8
Dec 2006
16
7
4
Jan 2007
30
12
7
Feb 2007
33
9
7
Mar 2007
5
25
13
Apr 2007
11
10
10
May 2007
6
14
7
Jun 2007
15
7
6
Jul 2007
10
13
5
Aug 2007
8
8
7
Sep 2007
9
22
18
Oct 2007
8
9
12
Nov 2007
13
7
4
Dec 2007
7
7
6
Jan 2008
10
7
5
Feb 2008
17
15
11
Mar 2008
13
6
7
Apr 2008
14
8
9
May 2008
8
4
5
Jun 2008
13
9
8
Jul 2008
13
5
3
Aug 2008
19
6
8
Sep 2008
20
8
5
Oct 2008
16
5
3
Nov 2008
21
5
5
Dec 2008
2
7
7
Jan 2009
18
7
5
Feb 2009
10
6
9
Mar 2009
24
3
2
Apr 2009
5
1
1
May 2009
13
10
5
Jun 2009
9
4
1
Jul 2009
19
3
0
Aug 2009
4
2
1
Sep 2009
11
0
0
Oct 2009
6
3
5
Nov 2009
11
3
1
Dec 2009
23
1
0
Jan 2010
13
0
4
Feb 2010
14
0
1
Mar 2010
7
1
5
Apr 2010
7
4
1
May 2010
7
3
6
Jun 2010
9
3
4
Jul 2010
11
3
7
Aug 2010
28
5
70
Sep 2010
23
7
169
Oct 2010
56
6
102
Nov 2010
33
5
1
Dec 2010
31
5
2
Jan 2011
40
16
0
Feb 2011
51
12
0
Mar 2011
36
12
4
Apr 2011
31
4
1
May 2011
49
5
2
Jun 2011
55
3
0
Jul 2011
61
8
7
Aug 2011
38
4
1
Sep 2011
55
16
0
Oct 2011
75
11
1
Nov 2011
53
5
2
Dec 2011
48
4
2
Jan 2012
45
0
0
Feb 2012
29
5
2
Mar 2012
49
13
0
Apr 2012
58
7
1
May 2012
56
4
0
Jun 2012
68
4
2
Jul 2012
32
8
2
Aug 2012
19
7
3
Sep 2012
29
2
1
Oct 2012
34
5
6
Nov 2012
17
10
2
Dec 2012
10
1
2
Jan 2013
10
0
0
Feb 2013
13
1
0
Mar 2013
18
4
3
Apr 2013
21
0
3
May 2013
15
3
4
Jun 2013
3
1
2
Jul 2013
5
1
2
Aug 2013
4
0
1
Sep 2013
5
1
2
Oct 2013
8
3
3
Nov 2013
15
1
4
Dec 2013
4
0
2
Jan 2014
15
4
4
Feb 2014
9
0
1
Mar 2014
12
4
5
Apr 2014
14
2
5
May 2014
8
5
8
Jun 2014
5
1
1
Jul 2014
11
2
2
Aug 2014
5
3
5
Sep 2014
9
2
3
Oct 2014
5
1
4
Nov 2014
2
1
4
Dec 2014
8
4
3
Jan 2015
6
2
1
Feb 2015
12
1
3
Mar 2015
1
0
2
Apr 2015
11
3
2
May 2015
5
0
1
Jun 2015
9
1
3
Jul 2015
5
0
5
Aug 2015
8
1
1
Sep 2015
15
0
6
Oct 2015
4
3
0
Nov 2015
10
1
3
Dec 2015
18
4
5
Jan 2016
26
3
8
Feb 2016
12
1
3
Mar 2016
10
3
4
Apr 2016
13
6
1
May 2016
3
1
1
Jun 2016
16
3
2
Jul 2016
19
4
21
Aug 2016
19
1
5
Sep 2016
22
0
5
Oct 2016
15
0
5
Nov 2016
11
2
4
Dec 2016
9
1
4
Jan 2017
11
2
6
Feb 2017
10
1
4
Mar 2017
14
3
6
Apr 2017
19
6
3
May 2017
16
3
13
Jun 2017
40
8
3
Jul 2017
41
2
4
Aug 2017
43
3
3
Sep 2017
50
0
8
Oct 2017
46
0
4
Nov 2017
45
1
3
Dec 2017
34
2
7
Jan 2018
34
2
5
Feb 2018
64
1
43
Mar 2018
50
6
8
Apr 2018
42
6
5
May 2018
50
7
4
Jun 2018
60
5
3
Jul 2018
44
3
2
Aug 2018
30
2
3
Sep 2018
28
2
4
Oct 2018
35
1
3
Nov 2018
36
0
1
Dec 2018
41
3
2
Jan 2019
37
1
1
Feb 2019
49
4
5
Mar 2019
43
2
5
Apr 2019
50
2
3
May 2019
51
1
5
Jun 2019
35
0
1
Jul 2019
26
1
0
Aug 2019
27
3
2
Sep 2019
17
1
3
Oct 2019
52
6
4
Nov 2019
47
3
2
Dec 2019
26
2
1
Jan 2020
28
1
0
Feb 2020
51
1
2
Mar 2020
51
3
4
Apr 2020
18
2
3
May 2020
31
0
1
Jun 2020
47
4
3
Jul 2020
28
6
7
Aug 2020
21
5
6
Sep 2020
45
1
2
Oct 2020
41
4
3
Nov 2020
50
3
3
Dec 2020
44
2
0
Jan 2021
62
4
1
Feb 2021
23
3
2
Mar 2021
32
8
4
Apr 2021
22
1
2
May 2021
34
8
2
Jun 2021
0
0
2
Jul 2021
4
4
3
Aug 2021
3
4
3
Sep 2021
3
4
2
Oct 2021
17
3
0
Nov 2021
23
1
1
Dec 2021
18
2
4
Jan 2022
17
3
2
Feb 2022
32
0
0
Mar 2022
27
2
2
Apr 2022
65
0
3
May 2022
43
0
6
Jun 2022
34
2
3
Jul 2022
29
4
5
Aug 2022
66
2
0
Sep 2022
55
3
9
Oct 2022
83
5
3
Nov 2022
40
2
1
Dec 2022
23
1
2
Jan 2023
48
6
2
Feb 2023
82
1
2
Mar 2023
18
0
1
Apr 2023
21
0
2
May 2023
35
1
4
Jun 2023
14
0
0
Jul 2023
41
2
5
Aug 2023
10
0
4
Sep 2023
17
3
2
Oct 2023
144
3
1
Nov 2023
276
3
2
Dec 2023
39
4
0
Jan 2024
74
0
5
Feb 2024
68
3
1
Mar 2024
52
5
2
Total
6071
903
1372
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