Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

Dysferlinopathy course and sportive activity: clues for possible treatment.

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Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

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Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Clinical genetics·2011

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.

Neurobiology of disease·2011

Observation of the decay B- → D(s)((*)+) K- ℓ- ν(ℓ).

Physical review letters·2011

Search for production of invisible final states in single-photon decays of Υ(1S).

Physical review letters·2011

Clinical and Genetic Spectrum of Large AIP Deletions.

Human mutation·2026

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Human mutation·2026

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Human mutation·2026

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.

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Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

Human mutation·2026

First Cornelia de Lange Syndrome Type 4 Caused by the Gonadal Mosaicism of RAD21 Deletion.

Human mutation·2026

A possible founder IRAK4 variant in Okinawa, Japan.

Journal of human immunity·2026

Functional impact of Nth like DNA glycosylase 1 on mitochondrial dynamics.

Nucleic acids research·2026

Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

EBioMedicine·2026

Transgenerational chromosome repair in the asexual bdelloid rotifer Adineta vaga.

Science advances·2026

Site-Specific Measurement of Meiotic Crossing-Over Rate with Droplet Digital PCR.

Cold Spring Harbor protocols·2026

The periphery of nuclear speckles defines a spatially and temporally regulated compartment of long-lived intron-retained RNAs that resolves during mitosis.

Nature cell biology·2026

Related Experiment Videos

Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

Related Concept Videos

Dysferlinopathy course and sportive activity: clues for possible treatment.

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues.

Observation of the decay B- → D(s)((*)+) K- ℓ- ν(ℓ).

Search for production of invisible final states in single-photon decays of Υ(1S).

Clinical and Genetic Spectrum of Large AIP Deletions.

A Novel Technique for Validating Copy Number Variants and Its Application in Familial Exudative Vitreoretinopathy.

Identification of COPZ1 as a Shared Candidate Ferroptosis-Related Hub Gene in Periodontitis and Inflammatory Bowel Disease.

The Charcot-Marie-Tooth Neuropathy (CMTX3) Complex Structural Variation Causes Differential SOX3 Spatiotemporal Expression.

Bayesian Integration of Tumor Mutational Signatures and Somatic Features Refines Pathogenicity Assessment of Germline Mismatch Repair Variants.

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A possible founder IRAK4 variant in Okinawa, Japan.

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Liver disease reveals KIF12 as a regulator of mitochondria, lysosome and cilia localisation in human cholangiocytes.

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Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

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