E-LIB Suche - Ergebnisse für: Tesi, Bianca

1

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/..

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

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/..

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

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/..

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/..

9

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/..

10

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/..

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/..

12

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/..

13

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/..

14

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/..

15

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/..