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# proj.
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# Ann.
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| @dpavot |
29538454 |
Here, we identify tumor-associated calcium signal transducer 2 (TACSTD2), one of the most downregula |
227 Bytes |
2020-02-26 |
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2 |
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5 |
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| @dpavot |
24898506 |
These include other keratin genes for monilethrix, the HR gene for atrichia congenita, the genes CDS |
314 Bytes |
2020-02-21 |
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1 |
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3 |
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| @dpavot |
24357125 |
Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (ACTN1, D |
555 Bytes |
2020-02-21 |
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1 |
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22 |
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| @dpavot |
27693232 |
Although overlapping features with Bohring-Opitz and Bainbridge-Ropers syndromes exist, features tha |
298 Bytes |
2020-02-21 |
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1 |
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5 |
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| @dpavot |
30365130 |
Following examination of the association of the identified SNPs to serum concentrations of triglycer |
532 Bytes |
2020-02-26 |
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1 |
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3 |
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| @dpavot |
28877067 |
We examined the diagnostic and prognostic value of altered reticulin framework and the immunoprofile |
563 Bytes |
2020-02-26 |
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1 |
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3 |
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| @dpavot |
27827380 |
While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carrie |
219 Bytes |
2020-02-26 |
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1 |
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3 |
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| @dpavot |
23086420 |
Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congeni |
317 Bytes |
2020-02-26 |
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1 |
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5 |
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| @dpavot |
30176312 |
Several studies have investigated single nucleotide polymorphisms (SNPs) in a number of genes associ |
280 Bytes |
2020-02-26 |
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1 |
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3 |
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| @dpavot |
24455740 |
We initially selected 6 fluoropyrimidine metabolism-related genes (DPYD, ORPT, TYMS, TYMP, TK1, and |
249 Bytes |
2020-02-26 |
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