Division of Clinical Genetics

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2025
Mark Diagnostic Yield and Genetic Variation in 85 Swedish Patients with Mild to Profound Hearing Loss Analyzed by Whole Genome Sequencing
Elander, Johanna ^LU ; Ullmark, Tove ^LU ; Löwgren, Karolina ^LU ; Stenfeldt, Karin ^LU ; Falkenius-Schmidt, Karolina ^LU ; Löfgren, Maria ; Castiglione, Alessandro ^LU ; Busi, Micol ; Jonson, Tord ^LU and Ivarsson, Sofie ^LU , et al. (2025) In Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 54. p.19160216251345471-19160216251345471
- Contribution to journal › Article
Mark Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families
Omran, Meis ; Liu, Yaxuan ; Sun Zhang, Alexander ; Poluha, Anna ; Stenmark-Askmalm, Marie ^LU ; Persson, Fredrik ; Hallbeck, Anna Lotta ; Rosén, Anna ; Helgadottir, Hafdis T. and Tham, Emma , et al. (2025) In European Journal of Human Genetics 33(4). p.513-522
- Contribution to journal › Article
Mark Reporting Bone Cytopathology-A Proposal Based on a Single Tertiary Centre Experience
Köster, Jan ^LU ; De Mattos, Camila Bedeschi Rego ^LU and Domanski, Henryk A ^LU (2025) In Cytopathology 36(2). p.123-139
- Contribution to journal › Article
2024
Mark Histology-specific long-term oncologic outcomes in patients with epithelial ovarian cancer who underwent complete tumor resection : The implication of occult seeds after initial surgery
Mogi, Kazumasa ; Yoshihara, Masato ; Emoto, Ryo ; Miyamoto, Emiri ; Fujimoto, Hiroki ; Uno, Kaname ^LU ; Tano, Sho ; Iyoshi, Shohei ; Kitami, Kazuhisa and Yoshikawa, Nobuhisa , et al. (2024) In PLoS ONE 19(11).
- Contribution to journal › Article
Mark Vi är redo : Ge lärosätena en tydlig roll i totalförsvaret
Alm, Jessica ; Arnberg, Filip ; Becker, Per ^LU ; Gisselsson Nord, David ^LU ; Rääf, Christopher ^LU and Öberg, Mattias (2024) In Tidningen Curie
- Contribution to journal › Debate/Note/Editorial
Mark No Conflicting Loyalties in Parents When Their Healthy Child Donates Stem Cells to a Severely Ill Sibling : An Interview Study
Rinaldo, Carina ; Stenmarker, Margaretha ; Øra, Ingrid ^LU and Pergert, Pernilla (2024) In Journal of Pediatric Hematology/Oncology Nursing 41(5). p.315-323
- Contribution to journal › Article
Mark A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities
Eisfeldt, Jesper ; Ameur, Adam ; Lenner, Felix ; Berk de Boer, Esmee Ten ; Ek, Marlene ; Wincent, Josephine ; Vaz, Raquel ; Ottosson, Jesper ; Jonson, Tord ^LU and Ivarsson, Sofie , et al. (2024) In Genome Research 34(11). p.1774-1784
- Contribution to journal › Article
Mark Blocking IL1RAP on cancer-associated fibroblasts in pancreatic ductal adenocarcinoma suppresses IL-1-induced neutrophil recruitment
Hansen, Nils ^LU ; Peña-Martínez, Pablo ^LU ; Skoog, Petter ; Reinbach, Katrin ^LU ; Hansen, Finja C. ^LU ; Faria, Susanne Larsson ; Grönberg, Caitríona ; Abdilleh, Kawther ; Magnusson, Susanne and Von Wachenfeldt, Karin , et al. (2024) In Journal for ImmunoTherapy of Cancer 12(12).
- Contribution to journal › Article
Mark Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone
Karpman, Diana ^LU ; Lindström, Martin L. ; Möller, Mattias ^LU ; Ivarsson, Sofie ; Kristoffersson, Ann Charlotte ^LU ; Bekassy, Zivile ^LU ; Fogo, Agnes B. and Elfving, Maria ^LU (2024) In Clinical Kidney Journal 17(8).
- Contribution to journal › Article
Mark Diagnosing Monogenic Stroke at Younger Age
Ilinca, Andreea ^LU ; Kafantari, Efthymia ^LU ; Wallenius, Joel ^LU ; Kristoffersson, Ulf ^LU ; Englund, Elisabet ^LU ; Puschmann, Andreas ^LU and Lindgren, Arne G. ^LU (2024) In Stroke 55(12). p.2846-2855
- Contribution to journal › Article

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