Skip to main content
Subscribe
Log In
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
Basket
Search
More
Search for this keyword
Advanced search
Latest content
Current issue
Archive
Authors
About
Search for this keyword
Advanced search
Close
More
Main menu
Latest content
Current issue
Archive
Authors
About
Subscribe
Log in
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
BMJ Journals
You are here
Home
Archive
Volume 51, Issue 6
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Email alerts
Article metrics
Article menu
Article
Text
Article
info
Citation
Tools
Share
Rapid Responses
Article
metrics
Alerts
PDF
Copy-number variation
Original article
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Online download statistics by month:
Online download statistics by month: April 2014 to October 2024
Abstract
Full
Pdf
Apr 2014
540
53
65
May 2014
835
193
73
Jun 2014
666
306
42
Jul 2014
267
67
41
Aug 2014
152
25
19
Sep 2014
67
25
17
Oct 2014
54
16
18
Nov 2014
102
12
13
Dec 2014
33
9
6
Jan 2015
60
23
19
Feb 2015
42
21
14
Mar 2015
57
32
32
Apr 2015
29
21
19
May 2015
25
25
18
Jun 2015
32
16
14
Jul 2015
38
29
19
Aug 2015
30
9
10
Sep 2015
48
17
12
Oct 2015
26
5
4
Nov 2015
29
12
13
Dec 2015
40
21
13
Jan 2016
43
15
14
Feb 2016
21
8
13
Mar 2016
22
5
36
Apr 2016
30
17
13
May 2016
45
8
8
Jun 2016
36
14
10
Jul 2016
45
10
5
Aug 2016
33
7
6
Sep 2016
43
8
13
Oct 2016
29
6
16
Nov 2016
38
18
15
Dec 2016
38
12
6
Jan 2017
45
11
8
Feb 2017
53
5
7
Mar 2017
57
8
5
Apr 2017
58
14
4
May 2017
61
11
9
Jun 2017
58
7
1
Jul 2017
119
7
8
Aug 2017
100
10
8
Sep 2017
98
11
4
Oct 2017
119
8
4
Nov 2017
136
6
9
Dec 2017
104
5
5
Jan 2018
117
6
3
Feb 2018
104
7
3
Mar 2018
127
16
4
Apr 2018
124
13
6
May 2018
153
6
7
Jun 2018
176
10
3
Jul 2018
152
3
4
Aug 2018
111
3
2
Sep 2018
76
5
3
Oct 2018
113
7
6
Nov 2018
93
3
6
Dec 2018
94
2
1
Jan 2019
93
8
5
Feb 2019
191
5
4
Mar 2019
129
9
9
Apr 2019
117
4
3
May 2019
90
2
3
Jun 2019
114
4
5
Jul 2019
98
6
3
Aug 2019
135
5
0
Sep 2019
97
8
3
Oct 2019
71
3
0
Nov 2019
92
3
4
Dec 2019
128
4
2
Jan 2020
138
3
3
Feb 2020
77
4
1
Mar 2020
120
3
4
Apr 2020
62
6
2
May 2020
24
4
1
Jun 2020
52
8
5
Jul 2020
57
7
3
Aug 2020
24
2
3
Sep 2020
106
2
3
Oct 2020
101
2
3
Nov 2020
85
5
4
Dec 2020
82
6
2
Jan 2021
107
5
4
Feb 2021
66
10
4
Mar 2021
108
3
2
Apr 2021
106
4
3
May 2021
43
4
3
Jun 2021
6
6
5
Jul 2021
6
5
2
Aug 2021
5
6
3
Sep 2021
9
9
3
Oct 2021
139
7
4
Nov 2021
80
7
1
Dec 2021
69
6
1
Jan 2022
58
7
0
Feb 2022
81
3
1
Mar 2022
104
6
1
Apr 2022
101
2
3
May 2022
126
9
7
Jun 2022
124
6
3
Jul 2022
141
0
1
Aug 2022
77
14
3
Sep 2022
96
2
0
Oct 2022
88
8
5
Nov 2022
60
4
0
Dec 2022
87
8
6
Jan 2023
61
8
2
Feb 2023
75
5
1
Mar 2023
166
17
9
Apr 2023
142
8
4
May 2023
72
4
3
Jun 2023
39
3
0
Jul 2023
76
9
9
Aug 2023
71
6
7
Sep 2023
62
6
4
Oct 2023
87
4
2
Nov 2023
171
5
4
Dec 2023
258
12
3
Jan 2024
64
4
3
Feb 2024
81
8
4
Mar 2024
90
16
3
Apr 2024
129
4
3
May 2024
101
8
5
Jun 2024
63
5
4
Jul 2024
90
8
7
Aug 2024
81
9
1
Sep 2024
115
8
3
Oct 2024
68
4
0
Total
12375
1664
977
Read the full text or download the PDF:
Subscribe
Log in
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?