Skip to main content
Viewing from:
Department GEZ-LTA Erasmushogeschool
Intended for healthcare professionals
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
Topic collections
Search for this keyword
Advanced search
Close
More
Main menu
Latest content
Current issue
Archive
Authors
About
Topic collections
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
More
You are viewing from:
Department GEZ-LTA Erasmushogeschool
You are here
Home
Archive
Volume 57, Issue 12
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Email alerts
Article metrics
Article menu
Article
Text
Article
info
Citation
Tools
Share
Rapid Responses
Article
metrics
Alerts
PDF
Developmental defects
Original research
De novo
mutations in the X-linked
TFE3
gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Free
Online download statistics by month:
Online download statistics by month: May 2020 to April 2025
Abstract
Full
Pdf
May 2020
571
44
28
Jun 2020
217
37
30
Jul 2020
157
16
8
Aug 2020
93
10
10
Sep 2020
236
30
20
Oct 2020
114
22
18
Nov 2020
380
280
52
Dec 2020
321
317
44
Jan 2021
496
484
43
Feb 2021
302
296
40
Mar 2021
191
182
37
Apr 2021
258
254
44
May 2021
212
205
59
Jun 2021
167
166
48
Jul 2021
164
164
43
Aug 2021
168
168
37
Sep 2021
188
187
35
Oct 2021
142
139
80
Nov 2021
119
112
53
Dec 2021
103
101
45
Jan 2022
82
82
36
Feb 2022
71
69
26
Mar 2022
121
122
38
Apr 2022
109
105
29
May 2022
110
117
50
Jun 2022
102
102
33
Jul 2022
83
82
38
Aug 2022
159
157
67
Sep 2022
102
97
45
Oct 2022
103
104
29
Nov 2022
82
76
33
Dec 2022
75
72
23
Jan 2023
202
194
62
Feb 2023
128
126
45
Mar 2023
121
119
49
Apr 2023
135
130
71
May 2023
111
113
48
Jun 2023
139
138
38
Jul 2023
132
134
47
Aug 2023
162
158
44
Sep 2023
140
137
30
Oct 2023
146
140
43
Nov 2023
174
158
23
Dec 2023
255
248
182
Jan 2024
91
70
112
Feb 2024
132
122
40
Mar 2024
172
165
51
Apr 2024
111
110
58
May 2024
91
85
32
Jun 2024
104
102
35
Jul 2024
187
153
57
Aug 2024
91
94
37
Sep 2024
151
149
26
Oct 2024
133
126
40
Nov 2024
126
115
33
Dec 2024
193
170
33
Jan 2025
183
175
47
Feb 2025
147
144
88
Mar 2025
137
136
62
Apr 2025
102
103
59
Total
9794
8213
2713
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?