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Volume 50, Issue 3
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
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Chromosomal rearrangements
Original article
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
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Online download statistics by month: January 2013 to October 2024
Abstract
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Jan 2013
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Feb 2013
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Mar 2013
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Apr 2013
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50
53
May 2013
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42
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Jun 2013
111
38
38
Jul 2013
143
21
16
Aug 2013
71
15
16
Sep 2013
64
20
19
Oct 2013
92
16
15
Nov 2013
56
20
16
Dec 2013
53
20
13
Jan 2014
80
26
22
Feb 2014
51
26
13
Mar 2014
56
19
20
Apr 2014
58
34
18
May 2014
67
17
12
Jun 2014
43
14
9
Jul 2014
29
20
10
Aug 2014
34
15
15
Sep 2014
34
12
17
Oct 2014
30
22
23
Nov 2014
29
18
19
Dec 2014
32
14
13
Jan 2015
34
17
15
Feb 2015
25
14
9
Mar 2015
42
18
19
Apr 2015
23
23
10
May 2015
25
11
11
Jun 2015
46
17
10
Jul 2015
39
8
6
Aug 2015
17
3
4
Sep 2015
29
8
8
Oct 2015
11
8
8
Nov 2015
27
12
6
Dec 2015
46
12
9
Jan 2016
143
8
7
Feb 2016
32
10
9
Mar 2016
61
17
12
Apr 2016
49
14
8
May 2016
20
8
5
Jun 2016
30
9
6
Jul 2016
45
5
5
Aug 2016
30
8
5
Sep 2016
42
9
3
Oct 2016
54
7
12
Nov 2016
50
11
11
Dec 2016
17
7
8
Jan 2017
36
6
8
Feb 2017
35
12
3
Mar 2017
30
16
4
Apr 2017
29
2
3
May 2017
46
9
1
Jun 2017
48
10
7
Jul 2017
121
13
9
Aug 2017
106
11
8
Sep 2017
90
7
8
Oct 2017
259
8
11
Nov 2017
368
14
9
Dec 2017
255
5
5
Jan 2018
222
7
7
Feb 2018
169
8
7
Mar 2018
116
10
13
Apr 2018
62
11
7
May 2018
111
12
6
Jun 2018
91
7
8
Jul 2018
80
8
4
Aug 2018
87
8
8
Sep 2018
78
12
13
Oct 2018
84
7
8
Nov 2018
149
7
8
Dec 2018
171
3
4
Jan 2019
91
4
6
Feb 2019
105
8
7
Mar 2019
69
4
3
Apr 2019
44
7
2
May 2019
60
6
1
Jun 2019
31
6
1
Jul 2019
43
6
2
Aug 2019
74
14
5
Sep 2019
51
6
3
Oct 2019
90
8
10
Nov 2019
50
1
3
Dec 2019
64
7
7
Jan 2020
63
4
1
Feb 2020
78
6
3
Mar 2020
18
5
1
Apr 2020
60
4
3
May 2020
53
1
0
Jun 2020
83
3
1
Jul 2020
28
1
1
Aug 2020
39
7
4
Sep 2020
64
6
5
Oct 2020
39
3
2
Nov 2020
43
2
1
Dec 2020
77
7
3
Jan 2021
39
0
3
Feb 2021
54
2
0
Mar 2021
58
6
6
Apr 2021
38
3
3
May 2021
13
9
5
Jun 2021
6
3
1
Jul 2021
7
7
6
Aug 2021
7
5
7
Sep 2021
3
2
0
Oct 2021
41
3
3
Nov 2021
86
4
6
Dec 2021
57
5
4
Jan 2022
69
3
0
Feb 2022
62
4
1
Mar 2022
46
6
1
Apr 2022
45
2
1
May 2022
90
8
6
Jun 2022
92
4
2
Jul 2022
72
9
5
Aug 2022
98
6
3
Sep 2022
101
10
6
Oct 2022
100
15
8
Nov 2022
48
5
2
Dec 2022
64
6
2
Jan 2023
85
7
1
Feb 2023
84
6
2
Mar 2023
97
7
3
Apr 2023
54
4
0
May 2023
40
1
1
Jun 2023
42
2
1
Jul 2023
54
2
1
Aug 2023
34
4
3
Sep 2023
28
4
2
Oct 2023
94
1
0
Nov 2023
191
2
1
Dec 2023
168
13
1
Jan 2024
121
9
2
Feb 2024
62
4
5
Mar 2024
54
0
0
Apr 2024
75
2
1
May 2024
76
8
3
Jun 2024
105
5
2
Jul 2024
63
4
0
Aug 2024
98
9
0
Sep 2024
76
3
3
Oct 2024
86
4
2
Total
11802
1577
1302
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