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Volume 48, Issue 9
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
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Exomes
Original article
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the
MTHFD1
gene in a single proband
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Online download statistics by month: August 2011 to March 2024
Abstract
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Pdf
Aug 2011
312
81
124
Sep 2011
219
28
54
Oct 2011
124
27
26
Nov 2011
133
42
29
Dec 2011
90
17
10
Jan 2012
173
19
22
Feb 2012
131
10
10
Mar 2012
173
9
17
Apr 2012
102
5
8
May 2012
110
14
15
Jun 2012
122
12
17
Jul 2012
94
13
12
Aug 2012
75
6
3
Sep 2012
103
20
11
Oct 2012
171
11
12
Nov 2012
167
6
5
Dec 2012
83
8
8
Jan 2013
125
17
13
Feb 2013
97
11
12
Mar 2013
104
10
13
Apr 2013
102
9
13
May 2013
93
10
7
Jun 2013
68
3
1
Jul 2013
60
6
4
Aug 2013
41
15
13
Sep 2013
61
5
4
Oct 2013
74
13
8
Nov 2013
71
8
7
Dec 2013
34
1
1
Jan 2014
64
6
6
Feb 2014
53
4
4
Mar 2014
73
5
3
Apr 2014
56
5
4
May 2014
50
3
2
Jun 2014
48
8
6
Jul 2014
36
4
2
Aug 2014
61
2
2
Sep 2014
56
4
3
Oct 2014
49
5
6
Nov 2014
35
3
1
Dec 2014
35
2
1
Jan 2015
54
3
3
Feb 2015
61
2
6
Mar 2015
60
5
6
Apr 2015
46
3
2
May 2015
18
3
3
Jun 2015
27
1
1
Jul 2015
31
3
2
Aug 2015
16
1
0
Sep 2015
61
4
3
Oct 2015
27
1
4
Nov 2015
37
2
2
Dec 2015
39
2
1
Jan 2016
61
1
2
Feb 2016
35
4
3
Mar 2016
48
1
3
Apr 2016
63
5
2
May 2016
24
6
2
Jun 2016
18
3
4
Jul 2016
29
4
5
Aug 2016
32
1
2
Sep 2016
35
4
2
Oct 2016
30
5
5
Nov 2016
24
3
4
Dec 2016
27
2
2
Jan 2017
32
4
5
Feb 2017
15
1
1
Mar 2017
22
1
0
Apr 2017
8
0
0
May 2017
23
5
4
Jun 2017
25
0
0
Jul 2017
48
0
0
Aug 2017
58
8
0
Sep 2017
56
1
2
Oct 2017
33
1
1
Nov 2017
57
7
5
Dec 2017
74
4
3
Jan 2018
79
4
5
Feb 2018
66
3
1
Mar 2018
87
4
3
Apr 2018
57
4
0
May 2018
76
5
4
Jun 2018
36
5
5
Jul 2018
64
3
1
Aug 2018
67
10
6
Sep 2018
38
1
1
Oct 2018
136
11
4
Nov 2018
78
2
0
Dec 2018
83
2
2
Jan 2019
62
8
8
Feb 2019
63
9
5
Mar 2019
78
3
1
Apr 2019
46
5
2
May 2019
48
2
2
Jun 2019
40
6
2
Jul 2019
40
3
2
Aug 2019
38
3
2
Sep 2019
39
2
1
Oct 2019
59
3
3
Nov 2019
43
6
1
Dec 2019
30
5
4
Jan 2020
55
5
1
Feb 2020
41
1
1
Mar 2020
20
4
0
Apr 2020
29
3
0
May 2020
60
3
1
Jun 2020
111
2
1
Jul 2020
39
1
2
Aug 2020
21
1
0
Sep 2020
61
2
1
Oct 2020
31
2
1
Nov 2020
56
9
2
Dec 2020
56
4
3
Jan 2021
42
4
3
Feb 2021
82
1
0
Mar 2021
21
3
3
Apr 2021
31
2
0
May 2021
10
4
0
Jun 2021
7
4
3
Jul 2021
4
2
2
Aug 2021
5
3
4
Sep 2021
7
2
0
Oct 2021
19
1
0
Nov 2021
33
1
1
Dec 2021
42
5
3
Jan 2022
42
3
1
Feb 2022
13
1
0
Mar 2022
40
2
1
Apr 2022
47
3
1
May 2022
74
2
1
Jun 2022
83
3
1
Jul 2022
57
2
2
Aug 2022
83
4
3
Sep 2022
53
3
1
Oct 2022
76
5
4
Nov 2022
55
7
2
Dec 2022
32
2
1
Jan 2023
30
1
0
Feb 2023
53
1
1
Mar 2023
25
1
1
Apr 2023
38
2
0
May 2023
26
2
0
Jun 2023
26
2
0
Jul 2023
20
0
0
Aug 2023
37
2
0
Sep 2023
33
2
2
Oct 2023
47
1
1
Nov 2023
96
4
3
Dec 2023
90
5
4
Jan 2024
104
1
6
Feb 2024
86
1
1
Mar 2024
49
2
1
Total
9033
830
744
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