Novel small mutations along the DMD/BMD gene associated with different phenotypes

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Journal of neurology·2026

Comparison of "IN-REC-SUR-E" and LISA in preterm neonates with respiratory distress syndrome: a randomized controlled trial (IN-REC-LISA trial).

Trials·2024

Visible proton Bragg curve imaging by colour centre photoluminescence in radiation detectors based on lithium fluoride films on silica.

Journal of physics. Condensed matter : an Institute of Physics journal·2024

Advanced spectroscopic investigation of colour centres in LiF crystals irradiated with monochromatic hard x-rays.

Journal of physics. Condensed matter : an Institute of Physics journal·2024

Male reproductive health after 3 months from SARS-CoV-2 infection: a multicentric study.

Journal of endocrinological investigation·2022

Molecular diagnosis of SARS-CoV-2 in seminal fluid.

Journal of endocrinological investigation·2021

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

Coexisting Pyogenic and Tuberculous Liver Abscess in Uncontrolled Diabetes: A Diagnostic Challenge.

Clinical case reports·2026

Clinical characteristics, drug resistance profiles, and inflammatory cytokine signatures in newly treated versus retreated MDR/RR-TB patients: associations with treatment outcomes.

Frontiers in microbiology·2026

Blood Metabolites Mediate the Effects of Gut Microbiota on Diabetic Nephropathy: A Mendelian Randomization Study.

International journal of endocrinology·2026

Alarming levels of fluoroquinolone resistance among MDR-TB patients in Poland: molecular and phenotypic analysis.

Frontiers in cellular and infection microbiology·2026

Scalp microbiome in male androgenetic alopecia: <i>16S</i> rRNA sequencing-based clinical characterization, mouse model validation, and effects on hair follicle cells.

Frontiers in cellular and infection microbiology·2026

Biomarkers in QuantiFERON Supernatants May Help Distinguish Latent Tuberculosis Infection From Active Tuberculosis: Preliminary Report.

Mediators of inflammation·2026

Related Experiment Videos

Novel small mutations along the DMD/BMD gene associated with different phenotypes

Related Concept Videos

X-linked Emery-Dreifuss muscular dystrophy: a multicenter, Italian, cohort study.

Comparison of "IN-REC-SUR-E" and LISA in preterm neonates with respiratory distress syndrome: a randomized controlled trial (IN-REC-LISA trial).

Visible proton Bragg curve imaging by colour centre photoluminescence in radiation detectors based on lithium fluoride films on silica.

Advanced spectroscopic investigation of colour centres in LiF crystals irradiated with monochromatic hard x-rays.

Male reproductive health after 3 months from SARS-CoV-2 infection: a multicentric study.

Molecular diagnosis of SARS-CoV-2 in seminal fluid.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Coexisting Pyogenic and Tuberculous Liver Abscess in Uncontrolled Diabetes: A Diagnostic Challenge.

Clinical characteristics, drug resistance profiles, and inflammatory cytokine signatures in newly treated versus retreated MDR/RR-TB patients: associations with treatment outcomes.

Blood Metabolites Mediate the Effects of Gut Microbiota on Diabetic Nephropathy: A Mendelian Randomization Study.

Alarming levels of fluoroquinolone resistance among MDR-TB patients in Poland: molecular and phenotypic analysis.

Scalp microbiome in male androgenetic alopecia: <i>16S</i> rRNA sequencing-based clinical characterization, mouse model validation, and effects on hair follicle cells.

Biomarkers in QuantiFERON Supernatants May Help Distinguish Latent Tuberculosis Infection From Active Tuberculosis: Preliminary Report.

Related Experiment Videos

Novel small mutations along the DMD/BMD gene associated with different phenotypes

Related Concept Videos

Related Articles