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Volume 55, Issue 5
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
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Genotype-phenotype correlations
Original Article
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome
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Abstract
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Mar 2018
451
72
40
Apr 2018
736
275
50
May 2018
345
316
93
Jun 2018
251
219
57
Jul 2018
194
212
40
Aug 2018
145
180
41
Sep 2018
99
136
35
Oct 2018
133
131
35
Nov 2018
96
94
52
Dec 2018
68
68
24
Jan 2019
71
69
19
Feb 2019
48
43
23
Mar 2019
39
37
27
Apr 2019
53
50
28
May 2019
61
54
22
Jun 2019
45
38
19
Jul 2019
49
46
18
Aug 2019
41
38
21
Sep 2019
60
54
14
Oct 2019
58
48
27
Nov 2019
56
50
21
Dec 2019
60
55
24
Jan 2020
66
61
15
Feb 2020
62
57
20
Mar 2020
61
57
19
Apr 2020
37
37
14
May 2020
57
53
32
Jun 2020
52
44
29
Jul 2020
38
35
19
Aug 2020
28
27
22
Sep 2020
53
37
27
Oct 2020
53
47
30
Nov 2020
45
43
27
Dec 2020
45
40
25
Jan 2021
45
40
16
Feb 2021
35
29
23
Mar 2021
56
50
30
Apr 2021
54
44
29
May 2021
52
45
33
Jun 2021
42
40
29
Jul 2021
60
53
30
Aug 2021
52
46
30
Sep 2021
56
45
32
Oct 2021
67
56
43
Nov 2021
58
42
40
Dec 2021
48
46
23
Jan 2022
76
62
36
Feb 2022
66
60
26
Mar 2022
70
63
33
Apr 2022
73
61
42
May 2022
65
65
38
Jun 2022
59
57
29
Jul 2022
74
76
36
Aug 2022
85
83
28
Sep 2022
57
54
22
Oct 2022
56
56
26
Nov 2022
76
69
21
Dec 2022
58
50
11
Jan 2023
54
49
16
Feb 2023
82
80
16
Mar 2023
67
62
21
Apr 2023
26
26
21
May 2023
39
31
16
Jun 2023
36
36
16
Jul 2023
57
50
35
Aug 2023
46
42
24
Sep 2023
39
33
22
Oct 2023
42
38
24
Nov 2023
45
39
11
Dec 2023
99
96
25
Jan 2024
120
96
34
Feb 2024
35
33
17
Mar 2024
55
48
67
Total
6038
4874
2080
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