A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Chronic kidney disease in the elderly: is it really a premise for overwhelming renal failure?

Kidney international·2006

Rationale and design of a study to evaluate management of proteinuria in patients at high risk for vascular events: the IMPROVE trial.

Journal of human hypertension·2006

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

Neurology·2006

Reduction in urea distribution volume over time in clinically stable dialysis patients.

Kidney international·2006

Peritoneal transport assessment by peritoneal equilibration test with 3.86% glucose: a long-term prospective evaluation.

Kidney international·2006

[Maintenance and monitoring of water treatment system].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia·2005

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

Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.

Neurogenetics·2026

Evaluation of genetic parameters affecting the reliability and effectiveness of kinship reconstruction in Forest and Tundra Nenets populations using X-STR markers.

Vavilovskii zhurnal genetiki i selektsii·2026

Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.

Frontiers in endocrinology·2026

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss.

Vavilovskii zhurnal genetiki i selektsii·2026

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.

Genome research·2026

Genetic Susceptibility in Relative Maternal Protection From Type 1 Diabetes.

Diabetes care·2026

Related Experiment Videos

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Related Concept Videos

Chronic kidney disease in the elderly: is it really a premise for overwhelming renal failure?

Rationale and design of a study to evaluate management of proteinuria in patients at high risk for vascular events: the IMPROVE trial.

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation.

Reduction in urea distribution volume over time in clinically stable dialysis patients.

Peritoneal transport assessment by peritoneal equilibration test with 3.86% glucose: a long-term prospective evaluation.

[Maintenance and monitoring of water treatment system].

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.

Founder mutations in movement disorders: global distribution, molecular mechanisms, and clinical consequences-a scoping review.

Evaluation of genetic parameters affecting the reliability and effectiveness of kinship reconstruction in Forest and Tundra Nenets populations using X-STR markers.

Case Report: A novel 1, 171 bp GCK promoter/exon 1 deletion in a Chinese pedigree: correcting a misdiagnosis of MODY10 based on an incidental INS variant.

A novel variant c.1185_1196dup (p.(Gly396_Ser399dup)) in the SLC26A4 gene associated with recessive hearing loss.

Optical genome mapping identifies clinically relevant somatic structural variation in epilepsy-affected brain tissue.

Genetic Susceptibility in Relative Maternal Protection From Type 1 Diabetes.

Related Experiment Videos

A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

Related Concept Videos

Related Articles