Genetic markers in individuals with a 5p- karyotype

4p16.3 haplotype modifying age at onset of Huntington disease.

Clinical genetics·2009

Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia.

European journal of neurology·2007

The prevalence and characteristics of migraine in twins from the general population.

Headache·2004

Molecular and behavioral analysis of the R6/1 Huntington's disease transgenic mouse.

Neuroscience·2003

Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients.

Annals of hematology·2002

Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.

European journal of neurology·2001

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

International journal of molecular sciences·2026

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

Plants (Basel, Switzerland)·2026

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

Journal of medical genetics·2026

Lessons from a systematic review of family-based studies in ALS.

Amyotrophic lateral sclerosis & frontotemporal degeneration·2026

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Annals of medicine and surgery (2012)·2026

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Related Experiment Videos

Genetic markers in individuals with a 5p- karyotype

Related Concept Videos

4p16.3 haplotype modifying age at onset of Huntington disease.

Double-blind crossover trial of gabapentin in SPG4-linked hereditary spastic paraplegia.

The prevalence and characteristics of migraine in twins from the general population.

Molecular and behavioral analysis of the R6/1 Huntington's disease transgenic mouse.

Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients.

Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization.

NAM-BSA: A Bulked Segregant Analysis Method Using a NAM Population.

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

Lessons from a systematic review of family-based studies in ALS.

Spadmiss with basal ganglia calcification and multilocus genetic disease: a novel phenotypic expansion.

Genome-wide meta-analysis with 1,590,596 individuals identifies 12 novel risk loci for systemic lupus erythematosus.

Related Experiment Videos

Genetic markers in individuals with a 5p- karyotype

Related Concept Videos

Related Articles