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Volume 42, Issue 1
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
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Medical genetics in practice
New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype
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Online download statistics by month: December 2004 to September 2024
Abstract
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Dec 2004
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Jun 2005
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Nov 2005
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Dec 2005
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Jan 2006
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Feb 2006
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Mar 2006
13
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43
Apr 2006
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34
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Jun 2006
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Sep 2006
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Oct 2006
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Nov 2006
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Dec 2006
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Jan 2007
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Mar 2007
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Apr 2007
11
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May 2007
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6
Jun 2007
9
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3
Jul 2007
11
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3
Aug 2007
5
6
9
Sep 2007
8
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3
Oct 2007
7
11
14
Nov 2007
9
9
8
Dec 2007
3
5
3
Jan 2008
13
8
8
Feb 2008
17
17
9
Mar 2008
7
7
6
Apr 2008
16
4
6
May 2008
19
1
2
Jun 2008
11
2
2
Jul 2008
9
1
2
Aug 2008
23
9
9
Sep 2008
17
6
2
Oct 2008
10
2
1
Nov 2008
18
2
2
Dec 2008
10
3
0
Jan 2009
12
0
1
Feb 2009
14
5
2
Mar 2009
6
4
2
Apr 2009
5
4
2
May 2009
12
1
1
Jun 2009
10
4
2
Jul 2009
14
5
4
Aug 2009
5
0
3
Sep 2009
13
2
0
Oct 2009
12
6
3
Nov 2009
7
3
1
Dec 2009
19
2
1
Jan 2010
17
4
4
Feb 2010
10
1
1
Mar 2010
13
10
7
Apr 2010
11
2
3
May 2010
8
6
7
Jun 2010
7
2
5
Jul 2010
7
1
2
Aug 2010
11
6
4
Sep 2010
9
7
6
Oct 2010
12
3
0
Nov 2010
15
10
7
Dec 2010
8
1
0
Jan 2011
6
1
1
Feb 2011
5
9
3
Mar 2011
15
7
2
Apr 2011
13
3
4
May 2011
13
5
5
Jun 2011
13
5
2
Jul 2011
18
4
2
Aug 2011
15
2
4
Sep 2011
18
3
3
Oct 2011
14
7
0
Nov 2011
14
8
4
Dec 2011
7
17
6
Jan 2012
12
8
3
Feb 2012
16
17
12
Mar 2012
11
8
5
Apr 2012
4
12
11
May 2012
21
9
9
Jun 2012
38
15
7
Jul 2012
36
12
10
Aug 2012
12
13
13
Sep 2012
13
10
9
Oct 2012
88
12
14
Nov 2012
27
11
11
Dec 2012
13
12
11
Jan 2013
44
23
16
Feb 2013
22
13
14
Mar 2013
34
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20
Apr 2013
36
15
7
May 2013
20
17
14
Jun 2013
13
14
8
Jul 2013
13
11
9
Aug 2013
21
11
13
Sep 2013
12
7
4
Oct 2013
14
14
4
Nov 2013
11
16
10
Dec 2013
9
13
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Jan 2014
14
19
9
Feb 2014
7
25
5
Mar 2014
9
26
6
Apr 2014
19
33
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May 2014
12
56
5
Jun 2014
11
37
4
Jul 2014
26
33
5
Aug 2014
17
39
5
Sep 2014
18
30
6
Oct 2014
33
10
6
Nov 2014
23
12
5
Dec 2014
14
8
8
Jan 2015
9
20
4
Feb 2015
8
10
4
Mar 2015
22
20
3
Apr 2015
7
20
5
May 2015
9
35
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Jun 2015
7
18
1
Jul 2015
8
14
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Aug 2015
8
50
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Sep 2015
31
20
8
Oct 2015
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12
5
Nov 2015
10
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3
Dec 2015
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Feb 2016
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12
Apr 2016
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Jun 2016
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7
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21
6
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17
24
8
Jan 2017
16
25
9
Feb 2017
5
17
13
Mar 2017
2
21
11
Apr 2017
0
12
0
May 2017
0
36
8
Jun 2017
8
23
6
Jul 2017
30
27
12
Aug 2017
40
36
12
Sep 2017
48
40
5
Oct 2017
44
38
5
Nov 2017
35
35
10
Dec 2017
33
27
11
Jan 2018
39
37
12
Feb 2018
26
14
13
Mar 2018
40
36
5
Apr 2018
51
47
11
May 2018
92
82
13
Jun 2018
109
95
8
Jul 2018
38
34
5
Aug 2018
116
108
13
Sep 2018
60
56
6
Oct 2018
103
99
9
Nov 2018
105
91
12
Dec 2018
122
120
16
Jan 2019
92
92
8
Feb 2019
97
93
9
Mar 2019
43
40
7
Apr 2019
36
31
9
May 2019
32
26
17
Jun 2019
29
19
15
Jul 2019
29
27
14
Aug 2019
32
29
12
Sep 2019
30
28
8
Oct 2019
34
32
10
Nov 2019
32
26
10
Dec 2019
37
29
16
Jan 2020
65
61
16
Feb 2020
39
27
13
Mar 2020
60
56
13
Apr 2020
43
35
4
May 2020
47
36
11
Jun 2020
29
29
15
Jul 2020
24
24
6
Aug 2020
30
28
12
Sep 2020
40
32
7
Oct 2020
65
59
20
Nov 2020
29
27
9
Dec 2020
30
30
21
Jan 2021
43
39
25
Feb 2021
35
35
17
Mar 2021
46
46
16
Apr 2021
85
71
16
May 2021
30
27
16
Jun 2021
33
33
16
Jul 2021
49
49
32
Aug 2021
34
32
24
Sep 2021
31
30
17
Oct 2021
47
45
42
Nov 2021
54
50
35
Dec 2021
48
46
13
Jan 2022
42
40
15
Feb 2022
44
41
14
Mar 2022
43
45
19
Apr 2022
33
31
11
May 2022
48
42
23
Jun 2022
58
57
28
Jul 2022
59
65
19
Aug 2022
77
83
26
Sep 2022
78
82
24
Oct 2022
68
63
22
Nov 2022
65
58
16
Dec 2022
37
38
10
Jan 2023
78
74
26
Feb 2023
62
56
16
Mar 2023
61
56
14
Apr 2023
43
47
22
May 2023
46
44
19
Jun 2023
48
38
8
Jul 2023
85
83
9
Aug 2023
71
68
20
Sep 2023
551
544
11
Oct 2023
4956
4954
17
Nov 2023
7826
7826
20
Dec 2023
2348
862
3
Jan 2024
115
6
13
Feb 2024
102
7
5
Mar 2024
243
11
1
Apr 2024
126
8
7
May 2024
197
6
2
Jun 2024
131
12
11
Jul 2024
148
4
4
Aug 2024
90
8
5
Sep 2024
70
5
5
Total
23060
20304
2367
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