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Seite 1 für „Mut“ · Literaturverweise aus öffentlichen Artikeln
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[Non-radioactive SSCP for the detection of androgen receptor gene mutation--a diagnostic tool for androgen resistance].
pubmed · 7533986
Literaturverweis öffnenRecurrent PIK3CA H1047R-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature
pubmed · 36826055
Literaturverweis öffnenCase report: Pseudoprogression mimicking neoplastic recurrence three months after completion of proton beam therapy for an IDH-mutant astrocytoma CNS WHO grade 3
pubmed · 39949738
Literaturverweis öffnenVariant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma
pubmed · 28561224
Literaturverweis öffnenStructural insights into mutated human phosphoglucomutase 1 (PGM1) using computational approaches
pubmed · 42412886
Literaturverweis öffnenProteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy
pubmed · 34740256
Literaturverweis öffnenDe novo twig-like middle cerebral artery after suspected M1 dissection in early childhood with coexisting KRAS-mutated brain arteriovenous malformation: illustrative case
pubmed · 41941829
Literaturverweis öffnenPosttraumatic Stress Disorder and Memory Problems After Female Genital Mutilation
pubmed · 15863806
Literaturverweis öffnenMolecular analysis and immunological characterization of a founder mutation causing ARPC1B deficiency
pubmed · 41249596
Literaturverweis öffnenThis is Your Thyroid on Drugs: Targetable Mutations and Fusions in Thyroid Carcinoma
pubmed · 42526969
Literaturverweis öffnenUpdate zum klinischen Einsatz von Inhibitoren mutierter Phosphokinasen beim Melanom.
pubmed · 28872247
Literaturverweis öffnenCoexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy
pubmed · 42256321
Literaturverweis öffnenSmall bowel GIST harboring concurrent KIT exon 9 duplication and SDHC mutation: A case report
pubmed · 42080642
Literaturverweis öffnenPrenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review
pubmed · 42432871
Literaturverweis öffnenZeitgemäße bildgebende Untersuchung bei (vermuteter) Stressfraktur
pubmed · 37650915
Literaturverweis öffnenPrimary hypertrophic osteoarthropathy complicated with myelofibrosis and compound heterozygous SLCO2A1 mutations: a case report and review of literature
pubmed · 42453880
Literaturverweis öffnenThrombocytapheresis as a Bridge Intervention in JAK2-Mutant Myeloproliferative Neoplasm Complicated by Acquired von Willebrand Disease: A Case Report
pubmed · 42366589
Literaturverweis öffnenA Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN
pubmed · 31350329
Literaturverweis öffnenConversion Disorder With Mutism as the Presenting Symptom
pubmed · 40970050
Literaturverweis öffnenA novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review
pubmed · 42071822
Literaturverweis öffnen[Congenital deaf-mutism and malformations of the occipital-cervical bones (Wildervanck syndrome)].
pubmed · 5660945
Literaturverweis öffnenThanatophoric Dysplasia Type I Confirmed by Fibroblast Growth Factor Receptor 3 (FGFR3) Mutation: Clinical Course and Ethical Considerations
pubmed · 42083712
Literaturverweis öffnenComprehensive genomic profiling and tumor mutational burden in parathyroid carcinoma: a nationwide real-world study from Japan
pubmed · 42455276
Literaturverweis öffnenPerianal Linear Syringocystadenoma Papilliferum, Apocrine Sweat Glands, Postzygotic BRAF Mutation and Genetic Mosaicism
pubmed · 41115279
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 öffnenImpact of Estrogen Deficiency on Dry Eye Disease in BRCA Mutation Carriers With Premature Menopause
pubmed · 42241016
Literaturverweis öffnenOmodysplasie Typ II – Erstpublikation einer de novo Mutation im FZD2-Gen
pubmed · 41022130
Literaturverweis öffnenSchimmelpenning-Feuerstein-Mims syndrome with orbital choristoma and <i>KRAS</i> mutation: a current review and novel case report
pubmed · 38097938
Literaturverweis öffnenFrom Germline Susceptibility to Therapeutic Vulnerability: DNA Damage Response Gene Mutations Driving Multiple Myeloma Evolution and Precision Therapy
pubmed · 42317213
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