Genetic heterogeneity in Duchenne muscular dystrophy

Emery-Dreifuss muscular dystrophy - a 40 year retrospective.

Neuromuscular disorders : NMD·2000

Genetic disorders in portraits.

American journal of medical genetics·1996

Some unanswered questions in Duchenne muscular dystrophy.

Neuromuscular disorders : NMD·1994

Communication with parents of children with cancer.

Palliative medicine·1994

Duchenne muscular dystrophy--Meryon's disease.

Neuromuscular disorders : NMD·1993

Edward Meryon (1809-1880) and muscular dystrophy.

Journal of medical genetics·1993

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Frontiers in genetics·2026

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Frontiers in genetics·2026

Notch-Regulated Hematopoiesis in Drosophila: Parallels and Contrasts with Vertebrate Blood Development.

Developmental biology·2026

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Journal of neural transmission (Vienna, Austria : 1996)·2026

Haplotype-resolved genome assembly of a male Dioscorea alata cultivar reveals the structure and evolution of young sex chromosomes.

The Plant journal : for cell and molecular biology·2026

Low-Level Viremia and Spatial Heterogeneity Among Individuals on Dolutegravir-Based Antiretroviral Therapy in Botswana: A Nationwide Study (2016-2022).

The Journal of infectious diseases·2026

Related Experiment Videos

Genetic heterogeneity in Duchenne muscular dystrophy

Related Concept Videos

Emery-Dreifuss muscular dystrophy - a 40 year retrospective.

Genetic disorders in portraits.

Some unanswered questions in Duchenne muscular dystrophy.

Communication with parents of children with cancer.

Duchenne muscular dystrophy--Meryon's disease.

Edward Meryon (1809-1880) and muscular dystrophy.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Notch-Regulated Hematopoiesis in Drosophila: Parallels and Contrasts with Vertebrate Blood Development.

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Haplotype-resolved genome assembly of a male Dioscorea alata cultivar reveals the structure and evolution of young sex chromosomes.

Low-Level Viremia and Spatial Heterogeneity Among Individuals on Dolutegravir-Based Antiretroviral Therapy in Botswana: A Nationwide Study (2016-2022).

Related Experiment Videos

Genetic heterogeneity in Duchenne muscular dystrophy

Related Concept Videos

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