Skip to main content
Subscribe
Log In
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
Basket
Search
More
Search for this keyword
Advanced search
Latest content
Current issue
Archive
Authors
About
Search for this keyword
Advanced search
Close
More
Main menu
Latest content
Current issue
Archive
Authors
About
Subscribe
Log in
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
BMJ Journals
You are here
Home
Archive
Volume 36, Issue 7
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Email alerts
Article metrics
Article menu
Article
Text
Article
info
Citation
Tools
Share
Rapid Responses
Article
metrics
Alerts
PDF
Original article
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
Online download statistics by month:
Online download statistics by month: October 1999 to March 2024
Abstract
Full
Pdf
Oct 1999
3
10
4
Nov 1999
4
13
4
Dec 1999
0
16
13
Jan 2000
0
4
6
Feb 2000
4
7
10
Mar 2000
1
13
12
Apr 2000
1
1
1
May 2000
0
2
2
Jun 2000
0
5
5
Jul 2000
1
3
1
Aug 2000
1
4
9
Sep 2000
6
6
2
Oct 2000
2
9
12
Nov 2000
2
15
1
Dec 2000
0
6
4
Jan 2001
0
5
0
Feb 2001
0
5
7
Mar 2001
1
5
5
Apr 2001
4
17
13
May 2001
6
6
2
Jun 2001
1
7
1
Jul 2001
1
6
1
Aug 2001
0
6
0
Sep 2001
1
3
0
Oct 2001
1
6
2
Nov 2001
0
10
6
Dec 2001
1
1
1
Jan 2002
1
10
3
Feb 2002
4
5
3
Mar 2002
4
8
3
Apr 2002
2
18
9
May 2002
2
11
5
Jun 2002
0
7
1
Jul 2002
3
4
4
Aug 2002
1
2
6
Sep 2002
0
12
8
Oct 2002
2
7
2
Nov 2002
1
8
1
Dec 2002
0
10
4
Jan 2003
1
6
0
Feb 2003
5
14
2
Mar 2003
0
10
14
Apr 2003
1
11
5
May 2003
3
5
2
Jun 2003
2
13
1
Jul 2003
11
12
1
Aug 2003
9
14
5
Sep 2003
10
16
3
Oct 2003
9
17
6
Nov 2003
13
13
2
Dec 2003
13
19
6
Jan 2004
15
22
3
Feb 2004
12
20
1
Mar 2004
15
27
6
Apr 2004
15
20
11
May 2004
38
47
8
Jun 2004
42
55
16
Jul 2004
48
62
9
Aug 2004
37
50
6
Sep 2004
33
54
13
Oct 2004
16
41
8
Nov 2004
17
70
11
Dec 2004
6
32
12
Jan 2005
21
65
9
Feb 2005
26
106
31
Mar 2005
17
79
19
Apr 2005
14
153
13
May 2005
6
57
15
Jun 2005
10
33
11
Jul 2005
5
13
6
Aug 2005
6
35
11
Sep 2005
9
44
18
Oct 2005
11
46
11
Nov 2005
12
64
14
Dec 2005
4
91
11
Jan 2006
3
44
4
Feb 2006
5
98
16
Mar 2006
4
88
8
Apr 2006
7
90
18
May 2006
7
52
12
Jun 2006
9
29
11
Jul 2006
6
14
6
Aug 2006
5
29
9
Sep 2006
12
54
13
Oct 2006
6
63
12
Nov 2006
11
67
29
Dec 2006
6
65
16
Jan 2007
18
63
28
Feb 2007
4
56
22
Mar 2007
13
105
29
Apr 2007
49
18
13
May 2007
26
23
9
Jun 2007
15
11
3
Jul 2007
13
6
3
Aug 2007
16
11
9
Sep 2007
27
16
5
Oct 2007
33
22
11
Nov 2007
33
30
12
Dec 2007
44
17
10
Jan 2008
32
13
6
Feb 2008
52
12
8
Mar 2008
47
19
20
Apr 2008
48
14
7
May 2008
26
11
4
Jun 2008
10
9
4
Jul 2008
22
3
4
Aug 2008
19
5
5
Sep 2008
30
8
2
Oct 2008
17
7
4
Nov 2008
33
9
4
Dec 2008
25
6
5
Jan 2009
31
7
3
Feb 2009
59
7
5
Mar 2009
60
15
5
Apr 2009
46
14
12
May 2009
28
6
4
Jun 2009
35
9
16
Jul 2009
6
2
1
Aug 2009
20
3
4
Sep 2009
8
10
6
Oct 2009
21
1
0
Nov 2009
52
17
5
Dec 2009
39
9
3
Jan 2010
47
9
3
Feb 2010
39
3
2
Mar 2010
66
5
3
Apr 2010
64
10
2
May 2010
26
8
1
Jun 2010
21
5
3
Jul 2010
16
4
2
Aug 2010
27
7
2
Sep 2010
26
13
6
Oct 2010
36
12
5
Nov 2010
52
19
9
Dec 2010
43
5
4
Jan 2011
63
6
1
Feb 2011
53
6
0
Mar 2011
74
10
4
Apr 2011
55
11
7
May 2011
42
3
2
Jun 2011
36
8
1
Jul 2011
116
5
3
Aug 2011
64
4
5
Sep 2011
88
7
3
Oct 2011
76
6
1
Nov 2011
75
22
7
Dec 2011
66
63
7
Jan 2012
53
71
7
Feb 2012
73
85
7
Mar 2012
121
84
13
Apr 2012
72
66
10
May 2012
47
83
7
Jun 2012
48
20
9
Jul 2012
28
27
3
Aug 2012
54
40
4
Sep 2012
56
34
5
Oct 2012
55
67
10
Nov 2012
38
65
6
Dec 2012
55
50
18
Jan 2013
46
81
11
Feb 2013
37
98
12
Mar 2013
48
62
9
Apr 2013
63
70
7
May 2013
47
76
16
Jun 2013
15
33
10
Jul 2013
15
16
7
Aug 2013
10
40
5
Sep 2013
13
61
10
Oct 2013
7
39
11
Nov 2013
14
63
3
Dec 2013
12
91
6
Jan 2014
10
58
4
Feb 2014
10
66
6
Mar 2014
14
126
6
Apr 2014
9
100
3
May 2014
8
97
9
Jun 2014
9
36
0
Jul 2014
8
43
0
Aug 2014
5
38
4
Sep 2014
11
39
4
Oct 2014
6
46
4
Nov 2014
9
45
7
Dec 2014
1
26
2
Jan 2015
8
20
5
Feb 2015
30
14
6
Mar 2015
13
39
2
Apr 2015
18
46
12
May 2015
9
48
5
Jun 2015
15
30
8
Jul 2015
9
20
5
Aug 2015
3
12
5
Sep 2015
11
28
5
Oct 2015
10
12
5
Nov 2015
12
21
9
Dec 2015
8
19
7
Jan 2016
7
22
3
Feb 2016
5
11
2
Mar 2016
8
20
7
Apr 2016
9
36
3
May 2016
3
57
3
Jun 2016
5
20
4
Jul 2016
0
6
5
Aug 2016
8
8
1
Sep 2016
8
14
7
Oct 2016
7
14
4
Nov 2016
10
24
7
Dec 2016
4
11
3
Jan 2017
8
13
4
Feb 2017
3
8
0
Mar 2017
2
12
3
Apr 2017
1
84
1
May 2017
3
19
7
Jun 2017
5
14
1
Jul 2017
16
15
0
Aug 2017
25
21
4
Sep 2017
24
16
2
Oct 2017
20
17
5
Nov 2017
49
37
6
Dec 2017
18
12
3
Jan 2018
30
26
5
Feb 2018
32
22
3
Mar 2018
27
23
10
Apr 2018
25
23
6
May 2018
50
40
4
Jun 2018
38
32
9
Jul 2018
41
37
11
Aug 2018
29
29
9
Sep 2018
34
32
1
Oct 2018
28
28
7
Nov 2018
47
43
9
Dec 2018
47
47
4
Jan 2019
40
37
5
Feb 2019
33
34
4
Mar 2019
56
54
3
Apr 2019
32
32
3
May 2019
33
29
6
Jun 2019
32
32
5
Jul 2019
42
32
4
Aug 2019
30
28
6
Sep 2019
37
37
5
Oct 2019
29
27
5
Nov 2019
30
26
7
Dec 2019
131
123
8
Jan 2020
43
43
4
Feb 2020
56
54
6
Mar 2020
29
26
3
Apr 2020
23
21
6
May 2020
26
22
2
Jun 2020
14
12
1
Jul 2020
16
16
2
Aug 2020
23
20
5
Sep 2020
31
25
5
Oct 2020
20
20
5
Nov 2020
20
15
6
Dec 2020
20
18
5
Jan 2021
30
26
2
Feb 2021
24
20
6
Mar 2021
33
32
4
Apr 2021
20
20
4
May 2021
12
12
2
Jun 2021
6
6
3
Jul 2021
11
11
6
Aug 2021
17
17
4
Sep 2021
13
13
0
Oct 2021
9
9
1
Nov 2021
12
10
11
Dec 2021
28
28
2
Jan 2022
33
29
8
Feb 2022
20
18
1
Mar 2022
27
22
4
Apr 2022
22
16
4
May 2022
31
32
3
Jun 2022
34
26
2
Jul 2022
28
26
3
Aug 2022
33
33
4
Sep 2022
36
32
3
Oct 2022
24
24
2
Nov 2022
20
18
4
Dec 2022
24
21
1
Jan 2023
26
22
2
Feb 2023
44
39
2
Mar 2023
16
10
3
Apr 2023
27
17
2
May 2023
22
14
8
Jun 2023
13
11
1
Jul 2023
17
15
5
Aug 2023
15
12
8
Sep 2023
12
10
3
Oct 2023
23
19
4
Nov 2023
38
35
2
Dec 2023
56
3
3
Jan 2024
45
1
0
Feb 2024
26
1
1
Mar 2024
63
0
0
Total
6767
8104
1752
Read the full text or download the PDF:
Subscribe
Log in
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
PDF