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Volume 36, Issue 7
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
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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 August 2024
Abstract
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Pdf
Oct 1999
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10
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Nov 1999
4
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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
Apr 2024
78
7
6
May 2024
27
0
0
Jun 2024
27
0
0
Jul 2024
18
0
1
Aug 2024
60
1
0
Total
6977
8112
1759
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