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Volume 58, Issue 5
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
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Developmental defects
Original research
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in
GNPNAT1
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Online download statistics by month: June 2020 to April 2025
Abstract
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Pdf
Jun 2020
285
22
12
Jul 2020
354
24
13
Aug 2020
138
16
7
Sep 2020
129
13
2
Oct 2020
214
13
3
Nov 2020
88
9
3
Dec 2020
64
5
5
Jan 2021
107
9
7
Feb 2021
111
5
4
Mar 2021
126
8
5
Apr 2021
422
16
16
May 2021
176
21
16
Jun 2021
16
12
10
Jul 2021
10
9
10
Aug 2021
13
8
7
Sep 2021
9
4
1
Oct 2021
225
9
5
Nov 2021
117
4
5
Dec 2021
143
7
2
Jan 2022
128
10
4
Feb 2022
127
15
4
Mar 2022
155
14
10
Apr 2022
157
12
6
May 2022
171
8
1
Jun 2022
112
4
0
Jul 2022
57
3
1
Aug 2022
168
6
4
Sep 2022
74
6
1
Oct 2022
107
7
0
Nov 2022
173
7
4
Dec 2022
93
4
2
Jan 2023
61
3
1
Feb 2023
108
3
0
Mar 2023
41
6
1
Apr 2023
66
2
1
May 2023
54
2
0
Jun 2023
65
2
2
Jul 2023
73
3
0
Aug 2023
76
4
5
Sep 2023
40
6
2
Oct 2023
65
4
1
Nov 2023
85
6
3
Dec 2023
106
3
3
Jan 2024
39
0
0
Feb 2024
85
9
0
Mar 2024
117
8
0
Apr 2024
80
6
4
May 2024
63
1
1
Jun 2024
82
3
5
Jul 2024
62
3
3
Aug 2024
57
6
0
Sep 2024
55
3
3
Oct 2024
74
2
1
Nov 2024
82
3
1
Dec 2024
53
3
1
Jan 2025
41
5
2
Feb 2025
12
2
2
Mar 2025
5
1
1
Apr 2025
5
3
4
Total
6021
412
217
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