Sequence of the exon-containing regions of the human factor VIII gene

Neurodegeneration associated with genetic defects in phospholipase A(2).

Neurology·2008

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.

Journal of inherited metabolic disease·2007

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

AJNR. American journal of neuroradiology·2006

Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse.

Gut·2004

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

Neurology·2002

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

Nature genetics·2001

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Human molecular genetics·2026

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Human molecular genetics·2026

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Human molecular genetics·2026

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Human molecular genetics·2026

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

Human molecular genetics·2026

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

Human molecular genetics·2026

The devil is in the enhancer: decoding regulatory variation at the ZNF827 locus in SCAD.

Clinical science (London, England : 1979)·2026

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

Human mutation·2026

A proof-of-concept application of gene set enrichment analysis principles to olfactory phenotyping in Parkinson's disease.

Frontiers in neuroscience·2026

Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.

Biochemistry and biophysics reports·2026

Comparative in silico analysis of miRNA targeting of NAC and MYB transcription factors associated with secondary cell wall regulation in rice and maize.

Frontiers in plant science·2026

Pangenome-wide identification and analysis of the heat shock transcription factor gene family in tea plant (Camellia sinensis).

Frontiers in plant science·2026

Related Experiment Videos

Sequence of the exon-containing regions of the human factor VIII gene

Related Concept Videos

Neurodegeneration associated with genetic defects in phospholipase A(2).

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration.

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

Mislocalisation of hephaestin, a multicopper ferroxidase involved in basolateral intestinal iron transport, in the sex linked anaemia mouse.

HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.

CaMKIIβ Signaling drives expression of metabolic and stress response genes in skeletal muscle, and its loss contributes to the LGMDR1 phenotype.

Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts.

Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.

Prevalence and mechanistic origins of genome-wide ploidy abnormalities in ICSI derived human preimplantation embryos.

Myofibrillar myopathy-associated KY protein promotes muscle fibre size rescue independent of its predicted catalytic triad.

In vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3' deletions.

The devil is in the enhancer: decoding regulatory variation at the ZNF827 locus in SCAD.

Biallelic WDR19 Variants: Systematic Analysis of Genotype-Phenotype Correlations.

A proof-of-concept application of gene set enrichment analysis principles to olfactory phenotyping in Parkinson's disease.

Comparing bulk and single-cell methodologies and models to profile gene expression, chromatin accessibility and regulatory links in endothelial cells treated with TNFα.

Comparative in silico analysis of miRNA targeting of NAC and MYB transcription factors associated with secondary cell wall regulation in rice and maize.

Pangenome-wide identification and analysis of the heat shock transcription factor gene family in tea plant (Camellia sinensis).

Related Experiment Videos

Sequence of the exon-containing regions of the human factor VIII gene

Related Concept Videos

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