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17 results for "mutation"

Nicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature pubmed_article
Evidence Source 2026 PMID: 41192108
THE USE OF HERBAL MEDICINES IN PREVENTING CANCER MUTATIONS IN ANIMAL MODELS EXPOSED TO TOXICANTS: A SYSTEMATIC REVIEW pubmed_article
Evidence Source 2025 PMID: 41314190
Alzheimer's Disease; Mechanism, Mutations, and Applications of Nano-Medicine pubmed_article
Evidence Source 2023 PMID: 37919079
Pharmacological Strategy for Congenital Myasthenic Syndrome with CHRNE Mutations: A Meta-Analysis of Case Reports pubmed_article
Evidence Source 2021 PMID: 32727330
The Fertility Effects of the C677T Mutation in the Methylenetetrahydrofolate Reductase Gene: A Cross-Site Systematic Review and Meta-Analysis pubmed_article
Evidence Source 2025 PMID: 40785353
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype pubmed_article
Evidence Source 2020 PMID: 32418263
Filaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation. unknown
wiki/source/pmid-38655655
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study. unknown
wiki/sources/guideline-pmid-39497415
[Guidelines on tests of PIK3CA mutation in breast cancer in China (2025 version)]. unknown
wiki/sources/guideline-pmid-39863526
[Expert consensus on the diagnosis and treatment of advanced non-small cell lung cancer with EGFR PACC mutations (2025 edition)]. unknown
wiki/sources/guideline-pmid-40841332
Neurobiology of a Mutation in Glycine Metabolism in Psychotic Disorders unknown
wiki/sources/nct-nct01720316
A Study Evaluating Talazoparib (BMN 673), a PARP Inhibitor, in Advanced and/or Metastatic Breast Cancer Patients With BRCA Mutation (EMBRACA Study) unknown
wiki/sources/nct-nct01945775
Study of Binimetinib + Nivolumab Plus or Minus Ipilimumab in Patients With Previously Treated Microsatellite-stable (MSS) Metastatic Colorectal Cancer With RAS Mutation unknown
wiki/sources/nct-nct03271047
Filaggrin Mutation Status and Prevention of Atopic Dermatitis with Maternal Probiotic Supplementation. unknown
wiki/sources/pmid-38655655
The genetics of non-syndromic dentinogenesis imperfecta: a systematic review pubmed_article
Evidence Source 2025 PMID: 39806231
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches pubmed_article
Evidence Source 2023 PMID: 37008993
Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review pubmed_article
Evidence Source 2022 PMID: 34009739

Evidence Search Results semantic · quality-ranked

The Fertility Effects of the C677T Mutation in the Methylenetetrahydrofolate Reductase Gene: A Cross-Site Systematic Review and Meta-Analysis meta_analysis pubmed_article
Quality: 55 2025 PMID: 40785353 DOI: 10.1002/ajhb.70119
Nicotine as target-therapy in Sleep-Related Hypermotor Epilepsy due to nAChR genes mutation: case report and systematic review of literature systematic_review pubmed_article
Quality: 59 2026 PMID: 41192108 DOI: 10.1016/j.sleep.2025.106884
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype systematic_review pubmed_article
Quality: 51 2020 PMID: 32418263 DOI: 10.1111/pedi.13041
TP53 Mutation Status in Myelodysplastic Neoplasm and Acute Myeloid Leukemia: Impact of Reclassification Based on the 5th WHO and International Consensus Classification Criteria: A Korean Multicenter Study. guideline guideline
Quality: 69 2025 PMID: 39497415 DOI: 10.3343/alm.2024.0351
Drug treatment for spinal muscular atrophy types II and III meta_analysis pubmed_article
Quality: 70 2020 PMID: 32006461 DOI: 10.1002/14651858.CD006282.pub5
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis meta_analysis pubmed_article
Quality: 65 2022 PMID: 35764087 DOI: 10.1016/j.xcrm.2022.100670
[Guidelines on tests of PIK3CA mutation in breast cancer in China (2025 version)]. guideline guideline
Quality: 65 2025 PMID: 39863526 DOI: 10.3760/cma.j.cn112151-20241120-00770
[Expert consensus on the diagnosis and treatment of advanced non-small cell lung cancer with EGFR PACC mutations (2025 edition)]. guideline guideline
Quality: 65 2025 PMID: 40841332 DOI: 10.3760/cma.j.cn112152-20250529-00247
A unified method for rare variant analysis of gene-environment interactions meta_analysis pubmed_article
Quality: 55 2020 PMID: 31799744 DOI: 10.1002/sim.8446
A TMEM16J variant leads to dysregulated cytosolic calcium which may lead to renal disease meta_analysis pubmed_article
Quality: 55 2023 PMID: 36520003 DOI: 10.1096/fj.202200968R

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