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 50, Issue 2
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
Email alerts
Article metrics
Article menu
Article
Text
Article
info
Citation
Tools
Share
Rapid Responses
Article
metrics
Alerts
PDF
PDF +
Supplementary
Material
Genotype-phenotype correlations
Original article
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
Free
Online download statistics by month:
Online download statistics by month: December 2012 to February 2024
Abstract
Full
Pdf
Dec 2012
625
412
113
Jan 2013
1198
1068
178
Feb 2013
659
223
136
Mar 2013
403
187
72
Apr 2013
264
112
61
May 2013
101
60
21
Jun 2013
61
44
28
Jul 2013
81
30
12
Aug 2013
50
25
15
Sep 2013
51
42
42
Oct 2013
56
27
38
Nov 2013
55
40
23
Dec 2013
39
20
33
Jan 2014
47
19
28
Feb 2014
40
28
30
Mar 2014
45
29
16
Apr 2014
58
25
14
May 2014
37
22
7
Jun 2014
31
27
16
Jul 2014
45
36
20
Aug 2014
40
31
27
Sep 2014
29
36
22
Oct 2014
46
36
15
Nov 2014
46
35
14
Dec 2014
47
29
22
Jan 2015
26
36
13
Feb 2015
29
24
15
Mar 2015
41
46
13
Apr 2015
34
25
6
May 2015
35
40
11
Jun 2015
22
17
10
Jul 2015
29
31
12
Aug 2015
22
20
13
Sep 2015
47
22
13
Oct 2015
19
15
5
Nov 2015
21
19
12
Dec 2015
34
22
10
Jan 2016
22
19
18
Feb 2016
24
13
7
Mar 2016
29
14
13
Apr 2016
28
12
10
May 2016
26
19
12
Jun 2016
26
16
10
Jul 2016
30
18
18
Aug 2016
37
17
13
Sep 2016
23
16
7
Oct 2016
36
16
8
Nov 2016
22
16
14
Dec 2016
30
17
13
Jan 2017
33
13
13
Feb 2017
5
11
11
Mar 2017
8
23
7
Apr 2017
4
25
7
May 2017
4
38
8
Jun 2017
6
31
5
Jul 2017
23
22
7
Aug 2017
58
47
7
Sep 2017
44
42
16
Oct 2017
47
37
12
Nov 2017
59
43
9
Dec 2017
48
40
10
Jan 2018
61
53
14
Feb 2018
61
41
8
Mar 2018
269
265
12
Apr 2018
85
82
2
May 2018
75
67
27
Jun 2018
120
111
8
Jul 2018
64
54
8
Aug 2018
144
142
5
Sep 2018
121
115
19
Oct 2018
121
119
7
Nov 2018
151
138
16
Dec 2018
146
142
20
Jan 2019
143
134
16
Feb 2019
106
102
4
Mar 2019
60
59
11
Apr 2019
31
29
12
May 2019
20
18
10
Jun 2019
19
18
17
Jul 2019
21
18
29
Aug 2019
22
20
8
Sep 2019
27
28
11
Oct 2019
33
17
6
Nov 2019
33
23
12
Dec 2019
15
15
10
Jan 2020
32
22
8
Feb 2020
18
16
7
Mar 2020
9
7
9
Apr 2020
12
10
20
May 2020
15
15
6
Jun 2020
26
20
9
Jul 2020
14
14
9
Aug 2020
12
6
15
Sep 2020
34
23
7
Oct 2020
41
28
27
Nov 2020
23
14
15
Dec 2020
24
18
14
Jan 2021
28
20
19
Feb 2021
44
36
13
Mar 2021
34
30
8
Apr 2021
17
9
7
May 2021
27
23
13
Jun 2021
26
26
9
Jul 2021
32
30
21
Aug 2021
42
45
20
Sep 2021
23
20
15
Oct 2021
23
20
19
Nov 2021
29
25
31
Dec 2021
35
19
14
Jan 2022
34
23
20
Feb 2022
20
15
11
Mar 2022
29
26
19
Apr 2022
27
20
15
May 2022
44
42
33
Jun 2022
50
49
20
Jul 2022
14
13
15
Aug 2022
37
27
14
Sep 2022
45
38
20
Oct 2022
37
33
15
Nov 2022
44
26
13
Dec 2022
25
19
6
Jan 2023
33
27
14
Feb 2023
34
28
12
Mar 2023
25
17
11
Apr 2023
13
11
17
May 2023
19
11
12
Jun 2023
18
12
7
Jul 2023
16
14
12
Aug 2023
28
22
29
Sep 2023
25
19
32
Oct 2023
52
50
6
Nov 2023
117
113
8
Dec 2023
50
28
21
Jan 2024
27
27
13
Feb 2024
21
19
11
Total
8637
6560
2424
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?