A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

Design and upgrades of the TCV fast ion loss detector.

The Review of scientific instruments·2025

Trends in the real-world management of patients with active relapsing-remitting multiple sclerosis treated with natalizumab (TYSABRI®) in France: An analysis of the PMSI database over five years (2019-2023).

Revue neurologique·2025

High-purified cannabidiol efficacy and safety in a cohort of adult patients with various types of drug-resistant epilepsies.

Revue neurologique·2023

Gas puff imaging on the TCV tokamak.

The Review of scientific instruments·2022

Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina.

Journal of proteomics·2022

[French practical guidelines for the diagnosis and management of IPF - 2021 update, full version].

Revue des maladies respiratoires·2022

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Human mutation·2026

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Human mutation·2026

Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort.

Human mutation·2026

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Human mutation·2026

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Human mutation·2026

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Human mutation·2026

Volumetric analysis of thalamic nuclei in children with vasovagal syncope.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Association of atropine use during neonatal intubation with cardiac arrest, severe bradycardia, and other adverse events: a report from NEAR4NEOS.

Journal of perinatology : official journal of the California Perinatal Association·2026

40 Hz Transcutaneous Auricular Vagus Nerve Stimulation Enhances Verbal Free Recall in Healthy Adults by Modulating Frontal Theta Oscillations.

NeuroImage·2026

The role of renin-angiotensin system modulation in the pathophysiology of neuropsychiatric disorders.

Hormones and behavior·2026

Effects of stellate ganglion block on postoperative sleep disturbance: a systematic review and meta-analysis.

Sleep & breathing = Schlaf & Atmung·2026

Brainstem volume and arterial stiffness interact to support memory in midlife.

Brain imaging and behavior·2026

Related Experiment Videos

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

Related Concept Videos

Design and upgrades of the TCV fast ion loss detector.

Trends in the real-world management of patients with active relapsing-remitting multiple sclerosis treated with natalizumab (TYSABRI®) in France: An analysis of the PMSI database over five years (2019-2023).

High-purified cannabidiol efficacy and safety in a cohort of adult patients with various types of drug-resistant epilepsies.

Gas puff imaging on the TCV tokamak.

Affinity purification of in vivo assembled whirlin-associated protein complexes from the zebrafish retina.

[French practical guidelines for the diagnosis and management of IPF - 2021 update, full version].

A De Novo Arg649Trp Variant in GluA2 Impairs Its Assembly With GluA1: Associated With Epilepsy and Neurodevelopmental Disorders.

Novel Strategy for Structural Variant Genotyping by Short-Read Genomic Sequencing From Restriction-Circles: Experimental and Bioinformatics Proof-of-Concept.

Expanding the Molecular Data of DICER1-Related Tumor Predisposition: Novel Germline Variants in an Argentine Pediatric Cohort.

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.

Knowledge Mapping of Human Genetic Variation in Multiomics Biomarker Translation: A Bibliometric Analysis.

Volumetric analysis of thalamic nuclei in children with vasovagal syncope.

Association of atropine use during neonatal intubation with cardiac arrest, severe bradycardia, and other adverse events: a report from NEAR4NEOS.

40 Hz Transcutaneous Auricular Vagus Nerve Stimulation Enhances Verbal Free Recall in Healthy Adults by Modulating Frontal Theta Oscillations.

The role of renin-angiotensin system modulation in the pathophysiology of neuropsychiatric disorders.

Effects of stellate ganglion block on postoperative sleep disturbance: a systematic review and meta-analysis.

Brainstem volume and arterial stiffness interact to support memory in midlife.

Related Experiment Videos

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene

Related Concept Videos

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