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2024
Mark The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
Lindahl, Hannes ; Svensson, Eva ; Danielsson, Annika ; Puschmann, Andreas ^LU ; Svenningson, Per ; Tesi, Bianca and Paucar, Martin (2024) In Heliyon 10(4).
- Contribution to journal › Article
Mark How to manage patients with germline DDX41 variants : Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms
Baliakas, Panagiotis ; Tesi, Bianca ; Cammenga, Jörg ^LU ; Stray-Pedersen, Asbjørg ; Jahnukainen, Kirsi ; Andersen, Mette Klarskov ; Ågerstam, Helena ^LU ; Creignou, Maria ; Dybedal, Ingunn and Raaschou-Jensen, Klas , et al. (2024) In HemaSphere 8(8).
- Contribution to journal › Article
Mark Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis
Chiang, Samuel C.C. ; Covill, Laura E. ; Tesi, Bianca ; Campbell, Tessa M. ; Schlums, Heinrich ; Nejati-Zendegani, Jelve ; Mördrup, Karina ; Wood, Stephanie ; Theorell, Jakob and Sekine, Takuya , et al. (2024) In Blood 144(8). p.873-887
- Contribution to journal › Article
Mark Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
Tesi, Bianca ; Robinson, Kristina Lagerstedt ; Abel, Frida ; Díaz de Ståhl, Teresita ; Orrsjö, Sara ; Poluha, Anna ; Hellberg, Maria ^LU ; Wessman, Sandra ; Samuelsson, Sofie and Frisk, Tony , et al. (2024) In The Lancet Regional Health - Europe 39.
- Contribution to journal › Article
2023
Mark Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
Wadensten, Elisabeth ^LU ; Wessman, Sandra ; Abel, Frida ; Diaz De Ståhl, Teresita ; Tesi, Bianca ; Orsmark Pietras, Christina ^LU ; Arvidsson, Linda ; Taylan, Fulya ; Fransson, Susanne and Vogt, Hartmut , et al. (2023) In JCO Precision Oncology 7. p.1-11
- Contribution to journal › Article
2017
Mark Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
Tesi, Bianca ; Davidsson, Josef ^LU ; Voss, Matthias ; Rahikkala, Elisa ; Holmes, Tim D ; Chiang, Samuel C C ; Komulainen-Ebrahim, Jonna ; Gorcenco, Sorina ^LU ; Rundberg Nilsson, Alexandra ^LU and Ripperger, Tim , et al. (2017) In Blood 129(16). p.2266-2279
- Contribution to journal › Article
2016
Mark Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Tesi, Bianca ; Priftakis, Peter ; Lindgren, Fredrik ; Chiang, Samuel C C ; Kartalis, Nikolaos ; Löfstedt, Alexandra ; Lörinc, Esther ^LU ; Henter, Jan Inge ; Winiarski, Jacek and Bryceson, Yenan T. , et al. (2016) In Journal of Clinical Immunology 36(5). p.480-489
- Contribution to journal › Article

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