Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Clinical genetics·2018

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Clinical genetics·2017

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Clinical genetics·2015

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Clinical genetics·2015

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Clinical genetics·2014

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Clinical genetics·2013

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

Human mutation·2026

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Human mutation·2026

Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.

Human mutation·2026

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

Human mutation·2026

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

A retrospective comparative diagnostic evaluation of three commercial qPCR kits for the diagnosis of mpox virus on an enriched sample set.

Frontiers in cellular and infection microbiology·2026

Clinical characteristics of Chlamydia psittaci pneumonia diagnosed by next-generation sequencing: An observational study.

Medicine·2026

Causal relationship between genetically predicted white blood cell count and systemic lupus erythematosus: A Mendelian randomization study.

Medicine·2026

Development and Proof-of-Concept Analytical Validation of a HotStart Loop-Mediated Isothermal Amplification (LAMP) Assay Targeting the UL1 Gene for Macacine alphaherpesvirus 1 (McHV-1).

Veterinary sciences·2026

Viral Metagenomic Sequencing Reveals Viral Codetection Patterns in Children with Respiratory Syncytial Virus Infection.

Viruses·2026

Viral Strategies and Cellular Countermeasures That Regulate mRNA Access to the Translation Apparatus: Second Edition.

Viruses·2026

Related Experiment Videos

Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

Related Concept Videos

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.

Patient-Derived iPSC-Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N-Terminal Variant p.Ala46Thr.

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.

A retrospective comparative diagnostic evaluation of three commercial qPCR kits for the diagnosis of mpox virus on an enriched sample set.

Clinical characteristics of Chlamydia psittaci pneumonia diagnosed by next-generation sequencing: An observational study.

Causal relationship between genetically predicted white blood cell count and systemic lupus erythematosus: A Mendelian randomization study.

Development and Proof-of-Concept Analytical Validation of a HotStart Loop-Mediated Isothermal Amplification (LAMP) Assay Targeting the UL1 Gene for Macacine alphaherpesvirus 1 (McHV-1).

Viral Metagenomic Sequencing Reveals Viral Codetection Patterns in Children with Respiratory Syncytial Virus Infection.

Viral Strategies and Cellular Countermeasures That Regulate mRNA Access to the Translation Apparatus: Second Edition.

Related Experiment Videos

Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy

Related Concept Videos

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