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Seite 2 für „Mut“ · Literaturverweise aus öffentlichen Artikeln
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A 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 öffnenPrimary hypertrophic osteoarthropathy complicated with myelofibrosis and compound heterozygous SLCO2A1 mutations: a case report and review of literature
pubmed · 42453880
Literaturverweis öffnenA novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation
pubmed · 29501407
Literaturverweis öffnen!Kung-Buschleute (Kungveld, Südwestafrika) Geschwisterrivalität, Mutter-Kind-Interaktion
other · W2899205049
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 öffnenFemale genital mutilation/cutting and risk of obstetric anal sphincter injury at delivery
pubmed · 42371926
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
Literaturverweis öffnenGuanine to adenine mutations in patients with lattice corneal dystrophy
pubmed · 10429500
Literaturverweis öffnenRevealing the role of a novel IDS gene mutation in mucpolysaccharidosis type II: insights from computational analysis
pubmed · 42005589
Literaturverweis öffnenClinical Features and Gene Mutation of Neonatal Seizures
pubmed · 42452325
Literaturverweis öffnenOncosuppressor-Mutated Cell-Based Diagnostic Platform for Liquid Biopsy Diagnoses Benign Head and Neck Masses and Predicts Malignancy in Thyroid Nodules: Results from a Consecutive Cohort of Patients
pubmed · 34395300
Literaturverweis öffnenAutosomal Dominant PKD in Patients With PKD2 Mutations-A Benign Disorder?
pubmed · 28941485
Literaturverweis öffnenReproductive medicine care in BRCA mutation carriers: an opportunity for early intervention
pubmed · 42027655
Literaturverweis öffnenThe Acari Hypothesis, VIII: the human apocrine-mammary-microbiota axis and Staphylococcus epidermidis mutualism
pubmed · 42293537
Literaturverweis öffnenComprehensive genomic profiling and tumor mutational burden in parathyroid carcinoma: a nationwide real-world study from Japan
pubmed · 42455276
Literaturverweis öffnenPCSK9 rs562556 variant and survival in BRCA1 mutation carriers and mutation-negative familial breast cancer
pubmed · 42297814
Literaturverweis öffnenHereditäre Pankreatitis - Mutationen im kationischen Trypsinogen-Gen: Ein Modell für die Pathogenese der nicht-hereditären akuten und chronischen Pankreatitis?
pubmed · 9424425
Literaturverweis öffnenSuccessful Salvage of a Mutilating Hand Injury With Multiple Digital Crush and Open Fractures: A Case Report
pubmed · 42116997
Literaturverweis öffnenAntimicrobial effect of plantago major extract against streptococcus mutans in dental caries formation
pubmed · 41538511
Literaturverweis öffnenArthritis Mutilans
pubmed · 23430715
Literaturverweis öffnenA Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis
pubmed · 31406543
Literaturverweis öffnenMutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
pubmed · 27866708
Literaturverweis öffnen