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BMJ Journals
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Volume 55, Issue 2
Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
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New disease loci
Original Article
Defect in phosphoinositide signalling through a homozygous variant in
PLCB3
causes a new form of spondylometaphyseal dysplasia with corneal dystrophy
Online download statistics by month:
Online download statistics by month: November 2017 to February 2024
Abstract
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Pdf
Nov 2017
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Dec 2017
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24
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Jan 2018
535
49
20
Feb 2018
273
30
22
Mar 2018
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19
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Apr 2018
156
7
4
May 2018
180
14
11
Jun 2018
197
16
13
Jul 2018
164
5
3
Aug 2018
112
5
6
Sep 2018
131
5
7
Oct 2018
110
7
8
Nov 2018
113
8
6
Dec 2018
93
5
5
Jan 2019
118
6
10
Feb 2019
60
5
10
Mar 2019
80
3
4
Apr 2019
55
3
3
May 2019
140
12
5
Jun 2019
63
15
9
Jul 2019
80
9
4
Aug 2019
59
9
1
Sep 2019
64
7
3
Oct 2019
54
4
4
Nov 2019
51
5
1
Dec 2019
36
1
2
Jan 2020
84
6
1
Feb 2020
76
8
8
Mar 2020
39
1
0
Apr 2020
79
3
0
May 2020
50
2
1
Jun 2020
50
3
7
Jul 2020
69
7
5
Aug 2020
33
5
4
Sep 2020
70
4
2
Oct 2020
47
6
5
Nov 2020
55
4
2
Dec 2020
87
3
1
Jan 2021
82
3
3
Feb 2021
134
12
19
Mar 2021
48
3
4
Apr 2021
60
3
4
May 2021
27
11
4
Jun 2021
7
4
1
Jul 2021
7
4
1
Aug 2021
2
0
0
Sep 2021
7
1
1
Oct 2021
27
0
0
Nov 2021
36
0
0
Dec 2021
51
5
3
Jan 2022
44
4
0
Feb 2022
35
1
2
Mar 2022
36
4
3
Apr 2022
33
1
1
May 2022
62
1
1
Jun 2022
59
1
0
Jul 2022
55
5
0
Aug 2022
82
3
1
Sep 2022
58
6
2
Oct 2022
70
0
1
Nov 2022
61
1
0
Dec 2022
40
1
3
Jan 2023
35
4
4
Feb 2023
73
1
2
Mar 2023
53
5
2
Apr 2023
73
3
1
May 2023
109
9
2
Jun 2023
32
4
2
Jul 2023
32
5
3
Aug 2023
22
0
0
Sep 2023
15
3
1
Oct 2023
24
0
0
Nov 2023
36
2
1
Dec 2023
81
2
2
Jan 2024
27
2
4
Feb 2024
19
0
2
Total
6506
479
325
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