Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A

Two-chamber gas target for laser-plasma electron source.

The Review of scientific instruments·2025

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2022

Penetrance is a critical parameter for assessing the disease liability of CFTR variants.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2020

Genetics of cystic fibrosis: Basics.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2020

Overexpression of certain transient receptor potential and Orai channels in prostate cancer is associated with decreased risk of systemic recurrence after radical prostatectomy.

The Prostate·2019

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2018

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Human mutation·2026

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

Human mutation·2026

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Human mutation·2026

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Human mutation·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Spatially ordered zygotic genome activation fulfills embryo quality control.

The Journal of cell biology·2026

Comprehensive Analysis of miRNAs and Predicted Protein Interaction Networks in Skeletal Muscle Development of Myostatin-Deficient Rabbits.

Animal genetics·2026

Defined O-acetylated Neu5Ac substrates reveal position-specific preferences of gut bacterial sialidases.

Glycobiology·2026

Decoding Frontotemporal Dementia: Genes, Proteins and Prospects for Precision Medicine.

Current Alzheimer research·2026

Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.

Frontiers in bioengineering and biotechnology·2026

Multimodal AI reading of genetic complexity and residual marrow composition in acute promyelocytic leukemia.

Frontiers in immunology·2026

Related Experiment Videos

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A

Related Concept Videos

Two-chamber gas target for laser-plasma electron source.

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.

Penetrance is a critical parameter for assessing the disease liability of CFTR variants.

Genetics of cystic fibrosis: Basics.

Overexpression of certain transient receptor potential and Orai channels in prostate cancer is associated with decreased risk of systemic recurrence after radical prostatectomy.

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation.

Association Between Mutation Context-Associated RUNX1 Transcriptional States and Immune-Stromal Heterogeneity in Nonsmall Cell Lung Cancer.

The Role of Genetic Variation in Phenotypic Variability in Loeys-Dietz Syndrome.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Spatially ordered zygotic genome activation fulfills embryo quality control.

Comprehensive Analysis of miRNAs and Predicted Protein Interaction Networks in Skeletal Muscle Development of Myostatin-Deficient Rabbits.

Defined O-acetylated Neu5Ac substrates reveal position-specific preferences of gut bacterial sialidases.

Decoding Frontotemporal Dementia: Genes, Proteins and Prospects for Precision Medicine.

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Related Experiment Videos

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A

Related Concept Videos

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