Muscular dystrophy: genetic counselling and family planning

Re-evaluation of the dysequilibrium syndrome.

Acta neurologica Scandinavica·2010

Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study.

Acta paediatrica (Oslo, Norway : 1992)·2002

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

Acta dermato-venereologica·1999

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Annals of neurology·1999

Risk factors for mortality in young children living under various socio-economic conditions in Lahore, Pakistan: with particular reference to inbreeding.

Clinical genetics·1998

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Human mutation·1998

Short- and long-term effects of a 12-week intensive functional restoration programme in individuals work-disabled by chronic spinal pain.

Scandinavian journal of rehabilitation medicine. Supplement·2000

The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders.

Scandinavian journal of rehabilitation medicine. Supplement·1999

Daily activities in women with rheumatoid arthritis. Aspects of patient education, assistive devices and methods for disability and impairment assessment.

Scandinavian journal of rehabilitation medicine. Supplement·1997

Prevention of occupational musculo-skeletal injuries. Labour Inspectorate investigation.

Scandinavian journal of rehabilitation medicine. Supplement·1996

Longitudinal studies of dependence in daily life activities among elderly persons.

Scandinavian journal of rehabilitation medicine. Supplement·1996

An overview of psychosocial and behavioral factors in neck-and-shoulder pain.

Scandinavian journal of rehabilitation medicine. Supplement·1995

Wilson disease associated with a novel variant in the ATP7B gene.

Frontiers in neurology·2026

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Scientific reports·2026

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Journal of genetics and genomics = Yi chuan xue bao·2026

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Clinica chimica acta; international journal of clinical chemistry·2026

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

Brain & development·2026

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

The Journal of heredity·2026

Related Experiment Videos

Muscular dystrophy: genetic counselling and family planning

Related Concept Videos

Re-evaluation of the dysequilibrium syndrome.

Prevalence and associated impairments of mild mental retardation in six- to ten-year old children in Pakistan: a prospective study.

Further evidence of genetic homogeneity in Sjögren-Larsson syndrome.

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Risk factors for mortality in young children living under various socio-economic conditions in Lahore, Pakistan: with particular reference to inbreeding.

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Short- and long-term effects of a 12-week intensive functional restoration programme in individuals work-disabled by chronic spinal pain.

The contribution of molecular genetics in the diagnosis and management of neuromuscular disorders.

Daily activities in women with rheumatoid arthritis. Aspects of patient education, assistive devices and methods for disability and impairment assessment.

Prevention of occupational musculo-skeletal injuries. Labour Inspectorate investigation.

Longitudinal studies of dependence in daily life activities among elderly persons.

An overview of psychosocial and behavioral factors in neck-and-shoulder pain.

Wilson disease associated with a novel variant in the ATP7B gene.

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.

Genetic architecture and inheritance patterns of Leber hereditary optic neuropathy among 419 Chinese pedigrees carrying the ND4 11778G>A mutation.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Novel splice site variants in GBA1 are associated with Gaucher disease and genotype-phenotype correlations.

High-Resolution Physical Mapping and Chromosomal Transmission in Sugarcane Progeny.

Related Experiment Videos

Muscular dystrophy: genetic counselling and family planning

Related Concept Videos

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