Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

Targeting antimicrobial stewardship in hospitalised patients with community-acquired pneumonia within 24 h of admission.

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Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines.

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β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.

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AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy.

Gene therapy·2015

APOE and BDNF polymorphisms moderate amyloid β-related cognitive decline in preclinical Alzheimer's disease.

Molecular psychiatry·2014

Karhunen-Loève treatment to remove noise and facilitate data analysis in sensing, spectroscopy and other applications.

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From Germline Variants to Tumor Outcome: GWAS-Based Functional Genomics Prioritizes Colorectal Cancer Susceptibility Genes and Links SMAD9 to Prognosis.

Human mutation·2026

Mutation-Immune Crosstalk Contextualizes CAF-Associated ARPC1A Programs and Cisplatin Response in Gastric Cancer.

Human mutation·2026

Identification of Novel Pathogenic Variants in Familial Adenomatous Polyposis Through Whole Genome Sequencing.

Human mutation·2026

A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.

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A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Human mutation·2026

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype.

Human mutation·2026

Comparative Evaluation of MRI and Ultrasonography for Temporomandibular Joint Pathologies with Emphasis on Bone Marrow Edema.

Dento maxillo facial radiology·2026

Arrhythmogenic Mitral Valve Prolapse: Looking Beyond Mitral Regurgitation.

JACC. Case reports·2026

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General dentistry·2026

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Journal of community hospital internal medicine perspectives·2026

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Clade-specific multiplex digital PCR assay for monkeypox virus detection in spike-in wastewater samples.

Access microbiology·2026

Related Experiment Videos

Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

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Targeting antimicrobial stewardship in hospitalised patients with community-acquired pneumonia within 24 h of admission.

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AAV1.NT-3 gene therapy attenuates spontaneous autoimmune peripheral polyneuropathy.

APOE and BDNF polymorphisms moderate amyloid β-related cognitive decline in preclinical Alzheimer's disease.

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Nonsense mutations in a Becker muscular dystrophy and an intermediate patient

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