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Seite 4 für „Mutation“ · Literaturverweise aus öffentlichen Artikeln
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Rare 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 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 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 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 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