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

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Human mutation·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Human mutation·2026

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Human mutation·2026

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

CD8+ T cells in synucleinopathies: differential immune mechanisms in Parkinson's disease and multiple system atrophy.

Neurologia i neurochirurgia polska·2026

The C-terminal truncated splicing variant of NK1R negatively modulates substance P-stimulated NK1R signaling.

FEBS open bio·2026

eNAMPT-IFITM3 axis links neuroinflammation to γ-secretase activation.

iScience·2026

Basic Research on the Lymphatic System and Exploratory Research in LVA Surgery for Alzheimer's Disease.

Current Alzheimer research·2026

Association of B-Type Natriuretic Peptide With Intrinsic Capacity Trajectories Among Chinese Older Adults.

Journal of the American Geriatrics Society·2026

DTI-ALPS as a Biomarker of Small Vessel Disease Progression and Amyloid-β in Normal Aging: A 3-Year Longitudinal Study.

Human brain mapping·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].

Uncovering the Novel Genetic Determinants of Primary Congenital Glaucoma in Pakistani Families.

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

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Infantile Epileptic Spasm Syndrome Caused by TAF1 Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development.

Conventional and Shared Genetic Association Analysis Between Diabetes Mellitus and Sensorineural Hearing Loss.

Clinical and Genetic Spectrum of Large AIP Deletions.

CD8+ T cells in synucleinopathies: differential immune mechanisms in Parkinson's disease and multiple system atrophy.

The C-terminal truncated splicing variant of NK1R negatively modulates substance P-stimulated NK1R signaling.

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Related Experiment Videos

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

Related Concept Videos

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