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Volume 56, Issue 12
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features
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Novel disease loci
Short report
Biallelic disruption of
PKDCC
is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features
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Online download statistics by month: November 2018 to November 2024
Abstract
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Nov 2018
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Feb 2019
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Apr 2019
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May 2019
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Jun 2019
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Jul 2019
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Aug 2019
190
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Sep 2019
189
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Oct 2019
130
3
1
Nov 2019
279
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16
Dec 2019
273
28
18
Jan 2020
152
18
13
Feb 2020
117
11
6
Mar 2020
64
7
5
Apr 2020
82
1
1
May 2020
79
6
3
Jun 2020
68
2
0
Jul 2020
62
3
2
Aug 2020
61
5
1
Sep 2020
61
8
6
Oct 2020
89
5
1
Nov 2020
16
2
2
Dec 2020
117
5
4
Jan 2021
64
11
9
Feb 2021
102
7
4
Mar 2021
97
2
3
Apr 2021
82
9
3
May 2021
49
4
2
Jun 2021
11
11
7
Jul 2021
8
4
2
Aug 2021
2
0
1
Sep 2021
14
7
2
Oct 2021
34
5
2
Nov 2021
53
3
4
Dec 2021
60
3
4
Jan 2022
36
6
1
Feb 2022
65
7
1
Mar 2022
45
2
3
Apr 2022
59
4
4
May 2022
51
3
2
Jun 2022
63
7
5
Jul 2022
38
4
2
Aug 2022
125
5
5
Sep 2022
88
8
4
Oct 2022
79
6
4
Nov 2022
69
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Dec 2022
46
8
9
Jan 2023
42
7
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Feb 2023
104
6
4
Mar 2023
36
10
3
Apr 2023
48
4
3
May 2023
43
0
1
Jun 2023
65
10
5
Jul 2023
17
3
1
Aug 2023
33
2
1
Sep 2023
18
4
3
Oct 2023
39
1
1
Nov 2023
43
3
3
Dec 2023
35
0
0
Jan 2024
34
4
3
Feb 2024
76
12
3
Mar 2024
52
7
1
Apr 2024
56
1
2
May 2024
44
1
0
Jun 2024
77
2
5
Jul 2024
74
5
2
Aug 2024
75
2
1
Sep 2024
58
4
3
Oct 2024
37
5
2
Nov 2024
90
3
3
Total
6810
482
286
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