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Volume 51, Issue 12
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability
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New loci
Original article
Whole exome sequencing in family trios reveals
de novo
mutations in
PURA
as a cause of severe neurodevelopmental delay and learning disability
Online download statistics by month:
Online download statistics by month: October 2014 to November 2023
Abstract
Full
Pdf
Oct 2014
259
226
126
Nov 2014
685
411
218
Dec 2014
572
246
122
Jan 2015
332
228
168
Feb 2015
187
123
78
Mar 2015
144
143
33
Apr 2015
67
75
21
May 2015
73
77
32
Jun 2015
50
82
24
Jul 2015
42
96
34
Aug 2015
44
85
34
Sep 2015
50
86
30
Oct 2015
44
49
89
Nov 2015
28
43
49
Dec 2015
64
69
22
Jan 2016
39
41
21
Feb 2016
31
40
16
Mar 2016
36
47
36
Apr 2016
65
50
43
May 2016
36
35
39
Jun 2016
32
45
29
Jul 2016
28
41
24
Aug 2016
31
29
9
Sep 2016
30
45
21
Oct 2016
29
26
17
Nov 2016
24
51
18
Dec 2016
19
33
13
Jan 2017
37
44
25
Feb 2017
11
29
23
Mar 2017
3
38
34
Apr 2017
4
62
16
May 2017
9
53
18
Jun 2017
22
66
25
Jul 2017
67
65
27
Aug 2017
64
49
18
Sep 2017
76
62
12
Oct 2017
81
69
20
Nov 2017
92
78
20
Dec 2017
60
58
12
Jan 2018
81
74
13
Feb 2018
91
55
17
Mar 2018
62
57
8
Apr 2018
63
60
10
May 2018
82
72
18
Jun 2018
117
114
16
Jul 2018
69
63
29
Aug 2018
82
66
28
Sep 2018
78
68
19
Oct 2018
53
49
17
Nov 2018
63
59
20
Dec 2018
80
75
22
Jan 2019
82
74
20
Feb 2019
62
58
26
Mar 2019
81
75
25
Apr 2019
67
62
29
May 2019
72
69
24
Jun 2019
76
68
20
Jul 2019
54
45
21
Aug 2019
63
62
28
Sep 2019
52
46
20
Oct 2019
74
61
126
Nov 2019
40
38
66
Dec 2019
157
157
51
Jan 2020
82
72
29
Feb 2020
39
37
40
Mar 2020
47
35
43
Apr 2020
62
62
68
May 2020
103
92
119
Jun 2020
42
34
25
Jul 2020
34
31
30
Aug 2020
31
22
25
Sep 2020
56
49
19
Oct 2020
67
48
59
Nov 2020
93
61
37
Dec 2020
49
33
23
Jan 2021
36
26
32
Feb 2021
39
34
26
Mar 2021
50
34
23
Apr 2021
53
40
21
May 2021
66
49
39
Jun 2021
39
39
26
Jul 2021
43
43
24
Aug 2021
26
28
30
Sep 2021
35
36
31
Oct 2021
60
53
57
Nov 2021
76
69
47
Dec 2021
43
36
19
Jan 2022
25
16
27
Feb 2022
42
27
18
Mar 2022
104
86
31
Apr 2022
53
38
20
May 2022
80
61
31
Jun 2022
61
46
21
Jul 2022
56
44
12
Aug 2022
58
47
20
Sep 2022
73
48
27
Oct 2022
79
65
28
Nov 2022
74
51
30
Dec 2022
43
35
22
Jan 2023
48
41
29
Feb 2023
45
39
16
Mar 2023
53
36
23
Apr 2023
57
56
26
May 2023
63
37
88
Jun 2023
41
33
16
Jul 2023
40
38
48
Aug 2023
63
47
29
Sep 2023
51
46
26
Oct 2023
139
132
15
Nov 2023
252
250
25
Total
8239
7204
3809
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