A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis

Avoided Quantum Tricritical Point and Emergence of a Canted Magnetic Phase in LaCr_{1-x}Fe_{x}Sb_{3}.

Physical review letters·2024

Using Bayesian Dynamic Borrowing to Maximize the Use of Existing Data: A Case-Study.

Therapeutic innovation & regulatory science·2023

A single-arm, multicenter, phase II trial of osimertinib in patients with epidermal growth factor receptor exon 18 G719X, exon 20 S768I, or exon 21 L861Q mutations.

ESMO open·2023

Reconciling Assumptions in Bottom-Up and Top-Down Approaches for Estimating Aerosol Emission Rates From Wildland Fires Using Observations From FIREX-AQ.

Journal of geophysical research. Atmospheres : JGR·2022

Multicenter Clinical Evaluation of the Automated Aries Group A Strep PCR Assay from Throat Swabs.

Journal of clinical microbiology·2018

Bioisosteres of ethyl 8-ethynyl-6-(pyridin-2-yl)-4H-benzo[f]imidazo [1,5-a][1,4]diazepine-3-carboxylate (HZ-166) as novel alpha 2,3 selective potentiators of GABAA receptors: Improved bioavailability enhances anticonvulsant efficacy.

Neuropharmacology·2018

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

Human mutation·2026

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Human mutation·2026

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Human mutation·2026

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Human mutation·2026

Activated coal gangue supplementary cementitious materials: mineral phase evolution, mechanical response, and microstructural strengthening mechanisms in low-carbon blended cement systems.

RSC advances·2026

Measurement of Subcellular Metabolite Concentrations in Relation to Phloem Loading.

Methods in molecular biology (Clifton, N.J.)·2026

Detecting Rapid Changes in Carbon Transport and Partitioning with Carbon-11 (11C).

Methods in molecular biology (Clifton, N.J.)·2026

Short-life bamboo lignocellulose is superior-convertible for advanced bioethanol and nanomaterials to decline CO2 emission and environmental impacts.

International journal of biological macromolecules·2026

Preparation of sludge-based activated carbon and its adsorption performance for Cr(VI) in wastewater.

Journal of the Air & Waste Management Association (1995)·2026

The carbohydrate utilization regulator Cbr1 coordinates nutrient-specific gene activation with selective carbon catabolite repression in a basidiomycete yeast.

PLoS biology·2026

Related Experiment Videos

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis

Related Concept Videos

Avoided Quantum Tricritical Point and Emergence of a Canted Magnetic Phase in LaCr_{1-x}Fe_{x}Sb_{3}.

Using Bayesian Dynamic Borrowing to Maximize the Use of Existing Data: A Case-Study.

A single-arm, multicenter, phase II trial of osimertinib in patients with epidermal growth factor receptor exon 18 G719X, exon 20 S768I, or exon 21 L861Q mutations.

Reconciling Assumptions in Bottom-Up and Top-Down Approaches for Estimating Aerosol Emission Rates From Wildland Fires Using Observations From FIREX-AQ.

Multicenter Clinical Evaluation of the Automated Aries Group A Strep PCR Assay from Throat Swabs.

Bioisosteres of ethyl 8-ethynyl-6-(pyridin-2-yl)-4H-benzo[f]imidazo [1,5-a][1,4]diazepine-3-carboxylate (HZ-166) as novel alpha 2,3 selective potentiators of GABAA receptors: Improved bioavailability enhances anticonvulsant efficacy.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

A Novel Homozygous Mutation in ARL2BP Causes Multiple Morphological Abnormalities of the Flagella and Primary Ciliary Dyskinesia.

CDKN3, PKP2, ADM, MS4A1, FAM83A, and DKK1 Define a Posttranslational Modification (PTM)-Associated Prognostic Model for Lung Adenocarcinoma.

Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders.

Type III Osteogenesis Imperfecta and COL1A1 Pathological Variants Are Associated With Higher Incidence and Progression of Hearing Loss.

Activated coal gangue supplementary cementitious materials: mineral phase evolution, mechanical response, and microstructural strengthening mechanisms in low-carbon blended cement systems.

Measurement of Subcellular Metabolite Concentrations in Relation to Phloem Loading.

Detecting Rapid Changes in Carbon Transport and Partitioning with Carbon-11 (11C).

Short-life bamboo lignocellulose is superior-convertible for advanced bioethanol and nanomaterials to decline CO2 emission and environmental impacts.

Preparation of sludge-based activated carbon and its adsorption performance for Cr(VI) in wastewater.

The carbohydrate utilization regulator Cbr1 coordinates nutrient-specific gene activation with selective carbon catabolite repression in a basidiomycete yeast.

Related Experiment Videos

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis

Related Concept Videos

Related Articles