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Tesi, Bianca
39
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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/..
?
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/..
?
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/..
?
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/..
?
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/..
?
6
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/..
?
7
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/..
?
8
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/..
?
9
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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10
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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11
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/..
?
12
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/..
?
13
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/..
?
14
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/..
?
15
Cancer risks by sex and variant type in PTEN hamartoma tumo..:
Hendricks, Linda A J
;
Hoogerbrugge, Nicoline
;
Mensenkamp, Arjen R
...
JNCI: Journal of the National Cancer Institute. 115 (2022) 1 - p. 93-103 , 2022
Link:
https://doi.org/10.1093/..
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