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Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Nucleic acids research, 2021-12, Vol.49 (22), p.12757-12768

2021

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Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration

Acta neuropathologica, 2022-06, Vol.143 (6), p.687-695

2022

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Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (34), p.13775-13780

2012

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Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis

Kidney international, 2016-01, Vol.89 (1), p.105-112

2016

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Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

Disease models & mechanisms, 2013-03, Vol.6 (2), p.434-442

2013

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Zebrafish based assays for the assessment of cardiac, visual and gut function — potential safety screens for early drug discovery

Journal of pharmacological and toxicological methods, 2008-07, Vol.58 (1), p.59-68

2008

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Physical and functional links between anion exchanger-1 and sodium pump

Journal of the American Society of Nephrology, 2015-02, Vol.26 (2), p.400-409

2015

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Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

Brain (London, England : 1878), 2018-01, Vol.141 (1), p.55-62

2018

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Extra-renal locations of the a4 subunit of H(+)ATPase

BMC cell biology, 2016-07, Vol.17 (1), p.27, Article 27

2016

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Frequency and signature of somatic variants in 1461 human brain exomes

Genetics in medicine, 2019-04, Vol.21 (4), p.904-912

2019

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High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease

Neurology. Genetics, 2023-02, Vol.9 (1), p.e200054-e200054

2023

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GBR12909 Possesses Anticonvulsant Activity in Zebrafish and Rodent Models of Generalized Epilepsy but Cardiac Ion Channel Effects Limit Its Clinical Utility

Pharmacology, 2007-01, Vol.79 (4), p.250-258

2007

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Prevalence, risk factors, and clinical outcomes of vitamin C deficiency in adult hospitalized patients in high-income countries: a scoping review

Nutrition reviews, 2024-01

2024

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Liberal or Restrictive Transfusion after Cardiac Surgery

The New England journal of medicine, 2015-03, Vol.372 (11), p.997-1008

2015

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Good practice guidelines for decision-analytic modelling in health technology assessment : A review and consolidation of quality assessment

PharmacoEconomics, 2006-01, Vol.24 (4), p.355-371

2006

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Towards a novel clinical outcome assessment for systemic lupus erythematosus: first outcomes of an international taskforce

Nature reviews. Rheumatology, 2023-09, Vol.19 (9), p.592-602

2023

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An Australian mixed methods pilot study exploring students performing patient risk screening

Nursing & health sciences, 2016-06, Vol.18 (2), p.203-209

2016

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Are lower levels of red blood cell transfusion more cost-effective than liberal levels after cardiac surgery? Findings from the TITRe2 randomised controlled trial

BMJ open, 2016-07, Vol.6 (8), p.e011311-e011311

2016

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Linee guida di buona pratica per creare modelli analitico-decisionali nella valutazione delle tecnologie sanitarie: Una rassegna e un consolidamento della valutazione della qualità

Giornale Italiano di health technology assessment, 2008, Vol.1 (1), p.1-14

2008

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Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration

Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype

Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

Zebrafish based assays for the assessment of cardiac, visual and gut function — potential safety screens for early drug discovery

Physical and functional links between anion exchanger-1 and sodium pump

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

Extra-renal locations of the a4 subunit of H(+)ATPase

Frequency and signature of somatic variants in 1461 human brain exomes

High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease

GBR12909 Possesses Anticonvulsant Activity in Zebrafish and Rodent Models of Generalized Epilepsy but Cardiac Ion Channel Effects Limit Its Clinical Utility

Prevalence, risk factors, and clinical outcomes of vitamin C deficiency in adult hospitalized patients in high-income countries: a scoping review

Liberal or Restrictive Transfusion after Cardiac Surgery

Good practice guidelines for decision-analytic modelling in health technology assessment : A review and consolidation of quality assessment

Towards a novel clinical outcome assessment for systemic lupus erythematosus: first outcomes of an international taskforce

An Australian mixed methods pilot study exploring students performing patient risk screening

Are lower levels of red blood cell transfusion more cost-effective than liberal levels after cardiac surgery? Findings from the TITRe2 randomised controlled trial

Linee guida di buona pratica per creare modelli analitico-decisionali nella valutazione delle tecnologie sanitarie: Una rassegna e un consolidamento della valutazione della qualità

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