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Thusberg, Janita
19  Ergebnisse:
Personensuche X
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1

Correction: Sherloc: a comprehensive refinement of the ACMG..:

Nykamp, Keith ; Anderson, Michael ; Powers, Martin...
Genetics in Medicine.  22 (2020)  1 - p. 240 , 2020
Link: https://doi.org/10.1038/..
 
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2

Sherloc: a comprehensive refinement of the ACMG–AMP variant..:

Nykamp, Keith ; Anderson, Michael ; Powers, Martin...
Genetics in Medicine.  19 (2017)  10 - p. 1105-1117 , 2017
Link: https://doi.org/10.1038/..
 
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3

In silico comparative characterization of pharmacogenomic m..:

Li, Biao ; Seligman, Chet ; Thusberg, Janita...
BMC Genomics.  15 (2014)  S4 - p. , 2014
Link: https://doi.org/10.1186/..
 
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4

Medium‐Chain Acyl‐CoA Deficiency: Outlines from Newborn Scr..:

Catarzi, Serena ; Caciotti, Anna ; Thusberg, Janita...
The Scientific World Journal.  2013 (2013)  1 - p. , 2013
Link: https://doi.org/10.1155/..
 
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5

Genome wide analysis of pathogenic SH2 domain mutations:

Lappalainen, Ilkka ; Thusberg, Janita ; Shen, Bairong.
Proteins: Structure, Function, and Bioinformatics.  72 (2008)  2 - p. 779-792 , 2008
Link: https://doi.org/10.1002/..
 
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6

Expression of sterol regulatory element-binding transcripti..:

Fan, Yue-Mei ; Karhunen, Pekka J ; Levula, Mari...
Thrombosis Journal.  6 (2008)  1 - p. 17 , 2008
Link: https://doi.org/10.1186/..
 
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7

CAGI, the Critical Assessment of Genome Interpretation, est..:

null, null ; Jain, Shantanu ; Bakolitsa, Constantina...
info:eu-repo/semantics/altIdentifier/pmid/38389099.  , 2024
Link: https://hdl.handle.net/1..
 
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8

CAGI, the Critical Assessment of Genome Interpretation, est..:

Jain, Shantanu ; Bakolitsa, Constantina ; Brenner, Steven E...
https://research.vumc.nl/en/publications/a936c5c2-8176-4e3d-a48d-5db276714a29.  , 2024
Link: https://research.vumc.nl..
 
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9

CAGI, the Critical Assessment of Genome Interpretation, est..:

Jain, Shantanu ; Bakolitsa, Constantina ; Brenner, Steven E...
https://discovery.ucl.ac.uk/id/eprint/10190952/1/CAGI,%20the%20Critical%20Assessment%20of%20Genome%20Interpretation,%20establishes%20progress%20and%20prospects%20for%20computational%20genetic%20variant.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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10

Assessing computational predictions of the phenotypic effec..:

Kasak, Laura ; Bakolitsa, Constantina ; Hu, Zhiqiang...
qt5jc5662r.  , 2019
Link: https://escholarship.org..
 
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11

Matching phenotypes to whole genomes: Lessons learned from ..:

Cai, Binghuang ; Li, Biao ; Kiga, Nikki...
qt9jj8d0fs.  , 2017
Link: https://escholarship.org..
 
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12

In silico comparative characterization of pharmacogenomic m..:

Li, Biao ; Seligman, Chet ; Thusberg, Janita...
http://www.biomedcentral.com/bmcgenomics/1471-2164/15/S4/S4.  , 2014
Link: http://www.biomedcentral..
 
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13

Molecular effects of missense mutations - Bioinformatics an..:

Thusberg, Janita
Acta Electronica Universitatis Tamperensis.  , 2010
Link: https://trepo.tuni.fi/ha..
 
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14

Expression of sterol regulatory element-binding transcripti..:

Fan, Yue-Mei ; Karhunen, Pekka J ; Levula, Mari...
http://www.thrombosisjournal.com/content/6/1/17.  , 2008
Link: http://www.thrombosisjou..
 
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15

Expression of sterol regulatory element-binding transcripti..:

Kytömäki Leena ; Salenius Juha-Pekka ; Vihinen Mauno...
http://www.thrombosisjournal.com/content/6/1/17.  , 2008
Link: https://doi.org/10.1186/..
 
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