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Tesi, Bianca
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1

Occurrence of cancer in Marfan syndrome: Report of two pati..:

Maya‐González, Carolina ; Delgado‐Vega, Angelica Maria ; Taylan, Fulya...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

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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3

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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4

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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5

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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6

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

Maya-González, Carolina ; Wessman, Sandra ; Lagerstedt-Robinson, Kristina...
Frontiers in Medicine.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

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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8

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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9

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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10

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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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

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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13

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

Lindstrand, Anna ; Ek, Marlene ; Kvarnung, Malin...
Genetics in Medicine.  24 (2022)  11 - p. 2296-2307 , 2022
Link: https://doi.org/10.1016/..
 
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14

Detection of germline mosaicism in fathers of children with..:

Frisk, Sofia ; Wachtmeister, Alexandra ; Laurell, Tobias...
Molecular Genetics & Genomic Medicine.  10 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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15

Genotype-phenotype associations in a large PTEN Hamartoma T..:

Hendricks, Linda A.J. ; Hoogerbrugge, Nicoline ; Venselaar, Hanka...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104632 , 2022
Link: https://doi.org/10.1016/..
 
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