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source DB |
source ID
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text
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size
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updated at |
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# proj.
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# Ann.
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updated_at |
| PubMed |
17033974 |
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy |
1.16 KB |
2015-11-23 |
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18 |
|
29 |
2021-12-23
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| PubMed |
17273972 |
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 dele |
1.11 KB |
2015-11-23 |
|
18 |
|
13 |
2021-12-23
|
| PubMed |
17318851 |
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to |
1.5 KB |
2015-12-26 |
|
10 |
|
23 |
2021-12-23
|
| PubMed |
17327131 |
Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant.
|
1.71 KB |
2015-12-28 |
|
11 |
|
20 |
2021-12-23
|
| PubMed |
17391797 |
The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers t |
1.48 KB |
2015-11-23 |
|
12 |
|
47 |
2021-12-23
|
| PubMed |
17495183 |
Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.
We |
1.48 KB |
2015-11-23 |
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12 |
|
48 |
2021-12-23
|
| PubMed |
17935240 |
Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.
The g.ORF15 + 652-653delAG mutation |
1.55 KB |
2015-11-23 |
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10 |
|
15 |
2021-12-23
|
| PubMed |
17962394 |
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutat |
1.3 KB |
2015-11-23 |
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12 |
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15 |
2021-12-23
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| PubMed |
18408250 |
A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rh |
1.87 KB |
2015-11-24 |
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11 |
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32 |
2021-12-23
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| PubMed |
18991055 |
Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and |
1.55 KB |
2015-11-24 |
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10 |
|
51 |
2021-12-23
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