Quantitative studies of glucose-6-phosphate dehydrogenase

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Journal of medical genetics·2009

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Clinical genetics·2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Clinical genetics·2007

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Journal of medical genetics·2005

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Journal of medical genetics·2003

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Clinical genetics·2003

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

American journal of human genetics·2026

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Hepatitis Overview: Metabolic Dysfunction-Associated Steatotic Liver Disease.

FP essentials·2026

Where metabolism and virulence meet-sulfoxide reductases as determinants of bacterial survival.

Biochemical Society transactions·2026

Mitochondrial dynamics in Huntington's disease.

Journal of Huntington's disease·2026

Enzalutamide-Induced Host Metabolic Reprogramming Is Associated with Treatment Outcomes in Patients with Castration-Resistant Prostate Cancer: A Hypothesis-Generating Study.

Clinical pharmacology and therapeutics·2026

Stem Cell-Derived Mitochondria-Enriched Preservation Solutions as Organelle-Based Therapeutic Strategy for Cold Storage of Liver and Kidney.

Advanced healthcare materials·2026

Fructose directly remodels the translocase of the outer membrane to impair oxidative phosphorylation in podocytes.

Signal transduction and targeted therapy·2026

Related Experiment Videos

Quantitative studies of glucose-6-phosphate dehydrogenase

Related Concept Videos

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Anthropometric and cardio-metabolic trait variation and genetic associations in sub-Saharan Africa.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Hepatitis Overview: Metabolic Dysfunction-Associated Steatotic Liver Disease.

Where metabolism and virulence meet-sulfoxide reductases as determinants of bacterial survival.

Mitochondrial dynamics in Huntington's disease.

Enzalutamide-Induced Host Metabolic Reprogramming Is Associated with Treatment Outcomes in Patients with Castration-Resistant Prostate Cancer: A Hypothesis-Generating Study.

Stem Cell-Derived Mitochondria-Enriched Preservation Solutions as Organelle-Based Therapeutic Strategy for Cold Storage of Liver and Kidney.

Fructose directly remodels the translocase of the outer membrane to impair oxidative phosphorylation in podocytes.

Related Experiment Videos

Quantitative studies of glucose-6-phosphate dehydrogenase

Related Concept Videos

Related Articles