Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

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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Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Human molecular genetics·2026

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Human molecular genetics·2026

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

Human molecular genetics·2026

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

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Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

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Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

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Cellular and molecular neurobiology·2026

Genetic covariance between plant biparental populations: concept and estimation.

Heredity·2026

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iScience·2026

Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

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Diagnostic limitations of routine low-coverage CNV-seq in detecting mosaic paternal uniparental disomy in Beckwith-Wiedemann syndrome: a case report.

Frontiers in medicine·2026

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Related Experiment Videos

Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

Related Concept Videos

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

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

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

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.

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

Optical genome mapping identifies cryptic balanced chromosomal rearrangements in karyotypically normal couples with recurrent pregnancy loss or adverse pregnancy history.

Cell-type-specific dysregulated gene expression in the frontal cortex of an Angelman syndrome pig model.

Coding, modifier, and regulatory effects shape circulating APOL1 levels.

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

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Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

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Genome-wide exploration of coat color-associated loci in Hokkaido Native Horses, with a novel locus implicated in the roan phenotype.

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Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16

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