Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12

Medical, statistical, ethical and human rights considerations in the assessment of age in children and young people subject to immigration control.

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Randomised trial of fentanyl anaesthesia in preterm babies undergoing surgery: effects on the stress response.

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Journal of medical genetics·2009

Mitochondrial disease in adults: a scale to monitor progression and treatment.

Neurology·2006

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

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The role of mitochondrial haplogroups in primary open angle glaucoma.

The British journal of ophthalmology·2006

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

Human molecular genetics·2026

Shared genetic architecture of schizophrenia and lupus identifies pleiotropic loci with distinct downstream mechanisms.

Human molecular genetics·2026

Motor dysfunction phenotypes in a drosophila model validate DAO as an ALS gene.

Human molecular genetics·2026

Tissue-specific models of spinal muscular atrophy identify muscle functions required for Drosophila neuromuscular junction architecture.

Human molecular genetics·2026

Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution.

Human molecular genetics·2026

MEF2C promoter variants in patent ductus arteriosus: a genetic and functional study.

Human molecular genetics·2026

Perioperative cerebrospinal fluid lactate and glucose changes following intracranial surgery: A prospective observational cohort study.

Medicine·2026

Associations of body fat percentage-based obesity with depression and comorbidity-related gut microbiota features in college students.

Frontiers in nutrition·2026

Correction: Synthesis, antibacterial activity, and mechanistic characterization of novel 9-substituted berberine derivatives.

RSC medicinal chemistry·2026

Anastomotic marginal ulceration after conversion of sleeve gastrectomy to Roux-en-Y gastric bypass.

Surgery for obesity and related diseases : official journal of the American Society for Bariatric Surgery·2026

Combined associations of triglyceride-glucose index and biochemical sarcopenia index with cardiometabolic multimorbidity in middle-aged and older Chinese adults.

Maturitas·2026

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Bipolar disorders·2026

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Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12

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Medical, statistical, ethical and human rights considerations in the assessment of age in children and young people subject to immigration control.

Randomised trial of fentanyl anaesthesia in preterm babies undergoing surgery: effects on the stress response.

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

Mitochondrial disease in adults: a scale to monitor progression and treatment.

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

The role of mitochondrial haplogroups in primary open angle glaucoma.

Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.

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