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BMJ Journals
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Volume 52, Issue 10
Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
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Abstract
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Aug 2015
241
58
48
Sep 2015
344
17
34
Oct 2015
293
7
18
Nov 2015
112
17
23
Dec 2015
87
9
8
Jan 2016
79
23
25
Feb 2016
56
12
13
Mar 2016
49
10
9
Apr 2016
48
12
13
May 2016
40
2
2
Jun 2016
47
11
8
Jul 2016
34
7
6
Aug 2016
41
11
4
Sep 2016
57
4
2
Oct 2016
40
8
7
Nov 2016
30
7
7
Dec 2016
19
5
6
Jan 2017
45
4
3
Feb 2017
30
12
6
Mar 2017
51
21
16
Apr 2017
23
23
4
May 2017
33
11
6
Jun 2017
51
16
8
Jul 2017
52
11
5
Aug 2017
135
7
7
Sep 2017
58
4
2
Oct 2017
79
10
4
Nov 2017
94
5
5
Dec 2017
73
10
5
Jan 2018
59
5
6
Feb 2018
55
8
4
Mar 2018
72
17
12
Apr 2018
87
15
6
May 2018
75
8
8
Jun 2018
78
14
9
Jul 2018
79
19
10
Aug 2018
55
5
3
Sep 2018
34
10
2
Oct 2018
90
9
4
Nov 2018
76
1
0
Dec 2018
95
3
1
Jan 2019
56
6
3
Feb 2019
48
4
6
Mar 2019
66
5
3
Apr 2019
57
10
3
May 2019
75
6
4
Jun 2019
81
3
3
Jul 2019
127
6
1
Aug 2019
130
4
4
Sep 2019
88
5
3
Oct 2019
55
11
8
Nov 2019
66
16
9
Dec 2019
35
1
1
Jan 2020
66
4
0
Feb 2020
49
1
3
Mar 2020
74
10
7
Apr 2020
71
3
2
May 2020
52
3
2
Jun 2020
49
4
4
Jul 2020
31
3
1
Aug 2020
19
0
0
Sep 2020
43
1
1
Oct 2020
46
4
2
Nov 2020
39
1
1
Dec 2020
47
3
0
Jan 2021
43
4
3
Feb 2021
113
1
5
Mar 2021
68
1
4
Apr 2021
95
2
3
May 2021
11
3
1
Jun 2021
2
2
1
Aug 2021
2
4
3
Sep 2021
1
1
0
Oct 2021
37
3
0
Nov 2021
68
5
2
Dec 2021
33
3
3
Jan 2022
54
11
3
Feb 2022
67
5
0
Mar 2022
35
7
3
Apr 2022
66
12
5
May 2022
59
3
1
Jun 2022
77
4
1
Jul 2022
59
1
0
Aug 2022
61
7
4
Sep 2022
55
9
0
Oct 2022
61
7
1
Nov 2022
89
2
0
Dec 2022
40
2
1
Jan 2023
39
1
1
Feb 2023
79
2
1
Mar 2023
23
13
6
Apr 2023
37
4
1
May 2023
61
5
9
Jun 2023
54
2
1
Jul 2023
53
7
2
Aug 2023
58
2
0
Sep 2023
37
3
0
Oct 2023
50
1
0
Nov 2023
50
8
4
Dec 2023
107
4
2
Jan 2024
75
3
10
Feb 2024
112
6
7
Mar 2024
40
2
0
Apr 2024
173
5
4
May 2024
46
2
2
Jun 2024
55
0
0
Jul 2024
31
2
2
Aug 2024
100
5
4
Sep 2024
27
2
1
Oct 2024
66
5
2
Total
7235
765
543
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