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Page 1
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L, Jimenez Heredia R, Hirschmugl T, Dmytrus J, Krolo A, Müller H, Bock C, Zeitlhofer P, Dworzak M, Mann G, Holter W, Haas O, Boztug K. Kager L, et al. Among authors: zeitlhofer p. Br J Haematol. 2018 Jul;182(2):251-258. doi: 10.1111/bjh.15389. Epub 2018 May 24. Br J Haematol. 2018. PMID: 29797310 Free PMC article.
High-resolution analysis of alterations in medullary thyroid carcinoma genomes.
Flicker K, Ulz P, Höger H, Zeitlhofer P, Haas OA, Behmel A, Buchinger W, Scheuba C, Niederle B, Pfragner R, Speicher MR. Flicker K, et al. Among authors: zeitlhofer p. Int J Cancer. 2012 Jul 15;131(2):E66-73. doi: 10.1002/ijc.26494. Epub 2011 Nov 28. Int J Cancer. 2012. PMID: 22038905 Free article.
A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.
Kager L, Jimenez-Heredia R, Zeitlhofer P, Novak W, Eder SK, Segarra-Roca A, Frohne A, Nebral K, Haimel M, Geyeregger R, Roetzer-Londgin K, Haas OA, Boztug K. Kager L, et al. Among authors: zeitlhofer p. Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan. Hemasphere. 2024. PMID: 38434532 Free PMC article. No abstract available.
Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.
Kager L, Minkov M, Zeitlhofer P, Fahrner B, Ratzinger F, Boztug K, Dossenbach-Glaninger A, Haas OA. Kager L, et al. Among authors: zeitlhofer p. Pediatr Blood Cancer. 2016 May;63(5):914-6. doi: 10.1002/pbc.25878. Epub 2016 Jan 5. Pediatr Blood Cancer. 2016. PMID: 26728349
11 results