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Tesi, Bianca
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1

The clinical spectrum of ataxia telangiectasia in a cohort ..:

Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika...
Heliyon.  10 (2024)  4 - p. e26073 , 2024
Link: https://doi.org/10.1016/..
 
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2

Diagnostic yield and clinical impact of germline sequencing..:

Tesi, Bianca ; Robinson, Kristina Lagerstedt ; Abel, Frida...
The Lancet Regional Health - Europe.  39 (2024)  - p. 100881 , 2024
Link: https://doi.org/10.1016/..
 
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3

Efficacy of T cell assays for the diagnosis of primary defe..:

Chiang, Samuel C.C ; Covill, Laura E ; Tesi, Bianca...
Blood Journal.  , 2024
Link: https://doi.org/10.1182/..
 
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4

The Clinical Picture of the ERCC6L2 Disease - from Bone Mar..:

Hakkarainen, Marja ; Kaaja, Ilse ; Douglas, Suvi P. M....
Blood.  , 2023
Link: https://doi.org/10.1182/..
 
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5

Precision medicine in rare diseases: What is next?:

Tesi, Bianca ; Boileau, Catherine ; Boycott, Kym M....
Journal of Internal Medicine.  294 (2023)  4 - p. 397-412 , 2023
Link: https://doi.org/10.1111/..
 
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6

Integrated Genomic and Transcriptomic Analysis Improves Dis..:

Todisco, Gabriele ; Creignou, Maria ; Bernard, Elsa...
Clinical Cancer Research.  29 (2023)  20 - p. 4256-4267 , 2023
Link: https://doi.org/10.1158/..
 
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7

Genome sequencing is a sensitive first-line test to diagnos..:

Lindstrand, Anna ; Ek, Marlene ; Kvarnung, Malin...
Pathology.  55 (2023)  - p. S19-S20 , 2023
Link: https://doi.org/10.1016/..
 
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8

Cryptotephras in the marine sediment record of the Edisto I..:

Di Roberto, Alessio ; Re, Giuseppe ; Scateni, Bianca...
Quaternary Science Advances.  10 (2023)  - p. 100079 , 2023
Link: https://doi.org/10.1016/..
 
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9

Integrating a Polygenic Risk Score into a clinical setting ..:

Baliakas, Panagiotis ; Munters, Arielle R ; Kämpe, Anders...
Journal of Medical Genetics.  61 (2023)  2 - p. 150-154 , 2023
Link: https://doi.org/10.1136/..
 
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10

T cell exocytosis testing provides superior sensitivity for..:

Chiang, Sam ; Tesi, Bianca ; Covill, Laura...
Clinical Immunology.  250 (2023)  - p. 109476 , 2023
Link: https://doi.org/10.1016/..
 
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11

P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERM..:

Tesi, Bianca ; Eriksson, Anna ; Baskin, Berivan...
HemaSphere.  7 (2023)  S3 - p. e790629d , 2023
Link: https://doi.org/10.1097/..
 
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12

Register-based and genetic studies of Prader-Willi syndrome..:

Carolina Maya-González ; Sandra Wessman ; Kristina Lagerstedt-Robinson...
https://www.frontiersin.org/articles/10.3389/fmed.2023.1172565/full.  , 2023
Link: https://doi.org/10.3389/..
 
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13

P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERM..:

Bianca Tesi ; Anna Eriksson ; Berivan Baskin...
http://journals.lww.com/10.1097/01.HS9.0000968932.79062.9d.  , 2023
Link: https://doi.org/10.1097/..
 
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14

Cryptotephras in the marine sediment record of the Edisto I..:

Alessio Di Roberto ; Giuseppe Re ; Bianca Scateni...
http://www.sciencedirect.com/science/article/pii/S2666033423000114.  , 2023
Link: https://doi.org/10.1016/..
 
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15

Cancer risks by sex and variant type in PTEN hamartoma tumo..:

Hendricks, Linda A.J ; Hoogerbrugge, Nicoline ; Mensenkamp, Arjen R...
https://research.rug.nl/en/publications/1cd09805-1429-451f-bbde-05dd7b72e687.  , 2023
Link: https://hdl.handle.net/1..
 
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