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Seite 5 für „Mut“ · Literaturverweise aus öffentlichen Artikeln
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Erdheim-Chester disease with recurrent fever, pneumonia, and autoimmune seropositivity for the BRAF V600E mutation
pubmed · 41131784
Literaturverweis öffnenManagement of the Mutilating Upper Extremity Injury
pubmed · 41265956
Literaturverweis öffnenClinicogenomic Landscape of MTAP-Deleted Thoracic Malignancies Across US and Japanese Nationwide Cohorts: Impact of Concurrent CDKN2A Alterations and Driver Mutations
pubmed · 42172559
Literaturverweis öffnenRare Presentation as Dilated Cardiomyopathy: PNPLA2 Gene Mutation and Neutral Lipid Storage Disease With Myopathy
pubmed · 41856356
Literaturverweis öffnenFetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation
pubmed · 30664540
Literaturverweis öffnenSTAT3-Mutated Hyper-IgE Syndrome With Retroperitoneal Abscess in Adolescence
pubmed · 41659947
Literaturverweis öffnenThe Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
pubmed · 34948090
Literaturverweis öffnenImpact of somatic PIK3CA mutations on clinical outcomes in HER2-positive breast cancer
pubmed · 42323696
Literaturverweis öffnenPsoriatic Arthritis Mutilans: Clinical and Radiographic Criteria. A Systematic Review
pubmed · 26077409
Literaturverweis öffnen[Calcium antagonists as amplifiers of the mutagenicity of cytostatic drugs].
pubmed · 8135036
Literaturverweis öffnenA Novel GATA2 Splice-Site Mutation Associated with Familial Myelodysplastic Syndrome
pubmed · 42384008
Literaturverweis öffnenThree cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel TRPM6 gene mutations and a literature review
pubmed · 42324811
Literaturverweis öffnenConnexin-26 mutations in deafness and skin disease
pubmed · 19939300
Literaturverweis öffnenStepwise Evolution and Epistatic Interaction of Driver Mutations from Endometrial Hyperplasia to Carcinoma
doi · 10.64898/2026.06.05.730445
Literaturverweis öffnenPrediction of germline BRCA mutation using clinicopathologic, MRI semantic, and radiomics features in high-risk breast cancer patients: a multicenter study
pubmed · 42404078
Literaturverweis öffnenA Case of Neonatal Junctional Epidermolysis Bullosa With a LAMB3 Mutation: Diagnostic Journey and Interdisciplinary Management
pubmed · 41728083
Literaturverweis öffnenDiagnostic Delay, Metagenomic Next-Generation Sequencing and Survival Outcomes in Balamuthia mandrillaris Granulomatous Amoebic Encephalitis: A Systematic Review of Global Case Reports
doi · 10.20944/preprints202606.1579.v1
Literaturverweis öffnenLutein biosynthesis and pigment dynamics in a partially chlorophyll-deficient mutant of Chlorella sp. under autotrophic, mixotrophic, and heterotrophic cultivation
pubmed · 42289743
Literaturverweis öffnenUnderlying mechanisms of the JAK2V617F mutation in the pathogenesis of myeloproliferative neoplasms
pubmed · 27796499
Literaturverweis öffnenSomatic Mutations in Acquired Pure Red Cell Aplasia: Incidence and Implications
pubmed · 41960629
Literaturverweis öffnen[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review]
pubmed · 40059686
Literaturverweis öffnenTransfusion-Independent iron overload in SF3B1-mutant myelodysplastic syndrome case report
pubmed · 42518276
Literaturverweis öffnenAn Integrated muti-omics cell atlas of the human trabecular meshwork and ciliary body
doi · 10.64898/2026.06.17.732980
Literaturverweis öffnen[Determination of superoxide dismutase (sod) in erythrocytes in glucose-6-phosphate dehydrogenase deficiency (G6PD-deficiency)]
pubmed · 6194077
Literaturverweis öffnenIdentification of a novel hereditary spherocytosis gene mutation in a Chinese child with α-globin gene triplication
pubmed · 42467362
Literaturverweis öffnenWhole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome
pubmed · 32382505
Literaturverweis öffnen[Autosomal recessive hypophosphatemic rickets/osteomalacia caused by a novel mutation in the DMP1 gene: a case report and literature review]
pubmed · 42427049
Literaturverweis öffnenA new case of hereditary spherocytosis with a gain-of-function SPTB mutation
doi · 10.21203/rs.3.rs-8993162/v1
Literaturverweis öffnenMulti-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1
pubmed · 28369186
Literaturverweis öffnen