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Seite 1 für „Mutation“ · 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 öffnenVariant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma
pubmed · 28561224
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 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 öffnenPrimary hypertrophic osteoarthropathy complicated with myelofibrosis and compound heterozygous SLCO2A1 mutations: a case report and review of literature
pubmed · 42453880
Literaturverweis öffnenA Pilot Study of Sirolimus in Subjects with Cowden Syndrome or Other Syndromes Characterized by Germline Mutations in PTEN
pubmed · 31350329
Literaturverweis öffnenA novel mutation in the human RAX gene in patients with microphthalmia and coloboma: A case report and literature review
pubmed · 42071822
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 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
Literaturverweis öffnenA case of selective IgG subclass deficiency with STAT3 mutation
pubmed · 27302695
Literaturverweis öffnenBiallelic GTF3A mutations underline a novel human combined immunodeficiency
doi · 10.64898/2026.07.24.26358408
Literaturverweis öffnen<scp>Schimmelpenning‐Feuerstein‐Mims</scp> syndrome induced by <i>HRAS</i> <scp>Gly12Ser</scp> somatic mosaic mutation: Case report and literature review
pubmed · 37170693
Literaturverweis öffnenAntenatal management of HNF4A-MODY and INSR mutations in pregnancy
pubmed · 42064724
Literaturverweis öffnenA novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
pubmed · 29501407
Literaturverweis öffnenDeciphering the mutational signature of congenital limb malformations
pubmed · 34094714
Literaturverweis öffnenFirst Case of Deficiency of Adenosine Deaminase 2 (DADA2) in Oman With a Novel Mutation: A Case Report
pubmed · 42220776
Literaturverweis öffnenBiallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration
pubmed · 41412221
Literaturverweis öffnenAlternating Upper Limb Monoplegia due to ATP1A3 Mutation
pubmed · 28214164
Literaturverweis öffnenCongenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives
pubmed · 30813293
Literaturverweis öffnenThe expected benefit of preventive mastectomy on breast cancer incidence and mortality in BRCA mutation carriers, by age at mastectomy
pubmed · 28914396
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