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Volume 54, Issue 2
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome
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Genotype-phenotype correlations
Original article
Homozygous and compound heterozygous mutations in the
FBN1
gene: unexpected findings in molecular diagnosis of Marfan syndrome
Online download statistics by month:
Online download statistics by month: August 2016 to April 2023
Abstract
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Pdf
Aug 2016
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2
2
Sep 2016
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86
76
Oct 2016
190
27
15
Nov 2016
135
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Dec 2016
93
8
56
Jan 2017
458
19
182
Feb 2017
373
28
53
Mar 2017
73
32
32
Apr 2017
83
25
16
May 2017
56
19
12
Jun 2017
77
27
16
Jul 2017
159
21
13
Aug 2017
285
72
42
Sep 2017
161
12
12
Oct 2017
226
20
23
Nov 2017
168
10
8
Dec 2017
227
21
23
Jan 2018
229
19
12
Feb 2018
259
18
16
Mar 2018
299
38
18
Apr 2018
220
30
13
May 2018
225
14
8
Jun 2018
193
18
10
Jul 2018
101
9
3
Aug 2018
135
13
9
Sep 2018
192
25
13
Oct 2018
271
26
6
Nov 2018
302
30
12
Dec 2018
193
9
6
Jan 2019
234
21
11
Feb 2019
272
19
9
Mar 2019
259
27
11
Apr 2019
198
16
8
May 2019
198
13
8
Jun 2019
91
6
4
Jul 2019
148
9
3
Aug 2019
96
13
3
Sep 2019
183
24
7
Oct 2019
190
15
3
Nov 2019
237
21
6
Dec 2019
231
11
3
Jan 2020
174
11
3
Feb 2020
150
6
4
Mar 2020
175
11
2
Apr 2020
88
8
11
May 2020
150
9
5
Jun 2020
108
7
3
Jul 2020
139
5
3
Aug 2020
154
21
11
Sep 2020
170
29
12
Oct 2020
197
22
6
Nov 2020
212
5
7
Dec 2020
146
11
3
Jan 2021
111
7
4
Feb 2021
252
22
12
Mar 2021
244
17
7
Apr 2021
148
23
13
May 2021
113
17
10
Jun 2021
14
13
6
Jul 2021
6
6
1
Aug 2021
18
17
11
Sep 2021
25
22
5
Oct 2021
276
19
11
Nov 2021
191
14
4
Dec 2021
163
13
2
Jan 2022
89
9
4
Feb 2022
111
9
8
Mar 2022
135
9
5
Apr 2022
90
9
6
May 2022
151
7
7
Jun 2022
204
13
8
Jul 2022
90
4
3
Aug 2022
113
9
8
Sep 2022
203
13
11
Oct 2022
175
19
5
Nov 2022
124
9
3
Dec 2022
132
9
8
Jan 2023
172
8
3
Feb 2023
205
16
3
Mar 2023
178
22
8
Apr 2023
137
10
3
Total
13937
1399
1043
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