نتائج البحث

The FGFR1 N546K mutation confers resistance to pemigatinib in MLN-ZMYM2::FGFR1

• Authors : Shoumariyeh, Khalid; Haug, Stefan Peter Gustav; Schwaab, Juliana

• Source: Leukemia. - 40, 4 (2026) , 837-840, ISSN: 1476-5551

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A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I

• Authors : Hoeser, Franziska; Saura, Patricia; Harter, Caroline

• Source: Chemical science. - 16, 17 (2025) , 7374-7386, ISSN: 2041-6539

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Calcinosis cutis of the lower legs - hyperphosphatemic familial tumoral calcinosis in a patient with GALNT3 mutation

• Authors : Ranzinger, David; Schäfer, Tobias; Schauer, Franziska

• Source: Journal der Deutschen Dermatologischen Gesellschaft. - 23, 9 (2025) , 1144-1146, ISSN: 1610-0387

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Impact of TP53 mutation status in elderly AML patients when adding all‐trans retinoic acid or valproic acid to decitabine

• Authors : Bresser, Helena; Schmoor, Claudia; Grishina, Olga

• Source: European journal of haematology. - 114, 2 (2025) , 231-237, ISSN: 1600-0609

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The effect of human WNT11 on left-right symmetry breakage : exploring the first patient case with a biallelic WNT11 loss-of-function mutation using Xenopus

• Authors : Berns, Henrike Elisabeth;

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Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

• Authors : Kastreva, Kristina; Chamova, Teodora; Blagoeva, Stanislava

• Source: Journal of neuromuscular diseases. - 11, 5 (2024) , 1011-1020, ISSN: 2214-3602

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Generation and genetic repair of two human induced pluripotent stem cell lines from patients with Epidermolysis Bullosa simplex associated with a heterozygous mutation in the translation initiation codon of KLHL24

• Authors : Pachis, Spyridon T.; Ramovs, Veronika; Freund, Christian T. F.

• Source: Stem cell research. - 81 (2024) , 103551, ISSN: 1876-7753

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Combined immunodeficiency caused by a novel nonsense mutation in LCK

• Authors : Keller, Bärbel; Kfir-Erenfeld, Shlomit; Matusewicz, Paul

• Source: Journal of clinical immunology. - 44, 1 (2024) , 4, ISSN: 1573-2592

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Identification of a novel missense mutation in NIPAL4 gene: first 3D model construction predicted its pathogenicity

• Authors : Laadhar, Sahar; Ben Mansour, Riadh; Marrakchi, Slaheddine

Subjects: Mutation

• Source: Molecular genetics & genomic medicine. - 8, 3 (2020) , e1104, ISSN: 2324-9269

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Mutation-specific CAR T cells as precision therapy for IGLV3-21R110 expressing high-risk chronic lymphocytic leukemia

• Authors : Märkl, Florian; Schultheiß, Christoph; Ali, Murtaza

• Source: Nature communications. - 15 (2024) , 993, ISSN: 2041-1723

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