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COST action TD1407: network on technology-critical elements (NOTICE)—from environmental processes to human health threats

Environmental science and pollution research international, 2015-10, Vol.22 (19), p.15188-15194

2015

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Smell and Taste Disorders Resulting from Cancer and Chemotherapy

Current pharmaceutical design, 2016-01, Vol.22 (15), p.2253-2263

2016

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STRetch: detecting and discovering pathogenic short tandem repeat expansions

Genome Biology, 2018-08, Vol.19 (1), p.121-121, Article 121

2018

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Approach to the diagnosis of congenital myopathies

Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.97-116

2014

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Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.246-268

2015

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Trace metal behaviour in estuarine and riverine floodplain soils and sediments: A review

Science of the total environment, 2009-06, Vol.407 (13), p.3972-3985

2009

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Biogeochemical factors affecting mercury methylation rate in two contaminated floodplain soils

Biogeosciences, 2012-01, Vol.9 (1), p.493-507

2012

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Neutralization potency of monoclonal antibodies recognizing dominant and subdominant epitopes on SARS-CoV-2 Spike is impacted by the B.1.1.7 variant

Immunity (Cambridge, Mass.), 2021-06, Vol.54 (6), p.1276-1289.e6

2021

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Mesenchymal stem cells inhibit T-cell function through conserved induction of cellular stress

PloS one, 2019-03, Vol.14 (3), p.e0213170-e0213170

2019

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Butyrophilin-like proteins display combinatorial diversity in selecting and maintaining signature intraepithelial γδ T cell compartments

Nature communications, 2020-07, Vol.11 (1), p.3769-16, Article 3769

2020

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A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.2673-2680

2020

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Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

American journal of human genetics, 2015-06, Vol.96 (6), p.955-961

2015

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910

2020

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NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature communications, 2020-09, Vol.11 (1), p.4625-4625, Article 4625

2020

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Tradeoffs and scaling of functional traits in Sphagnum as drivers of carbon cycling in peatlands

Oikos, 2014-07, Vol.123 (7), p.817-828

2014

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Genetics of neuromuscular fetal akinesia in the genomics era

Journal of medical genetics, 2018-08, Vol.55 (8), p.505-514

2018

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STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Genome Biology, 2022-12, Vol.23 (1), p.257-20, Article 257

2022

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Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

American journal of human genetics, 2008-02, Vol.82 (2), p.510-515

2008

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Critical review of dog detection and the influences of physiology, training, and analytical methodologies

Talanta (Oxford), 2018-08, Vol.185, p.499-512

2018

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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

American journal of human genetics, 2014-08, Vol.95 (2), p.218-226

2014

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A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

Journal of medical genetics, 2020-12, Vol.57 (12), p.835-842

2020

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The influence of vegetation on the horizontal and vertical distribution of pollutants in a street canyon

The Science of the total environment, 2013-01, Vol.443, p.287-298

2013

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Cycles and Propagation of Deep Convection over Equatorial Africa

Monthly weather review, 2011-09, Vol.139 (9), p.2832-2853

2011

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

American journal of human genetics, 2016-09, Vol.99 (3), p.666-673

2016

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

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COST action TD1407: network on technology-critical elements (NOTICE)—from environmental processes to human health threats

Smell and Taste Disorders Resulting from Cancer and Chemotherapy

STRetch: detecting and discovering pathogenic short tandem repeat expansions

Approach to the diagnosis of congenital myopathies

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

Trace metal behaviour in estuarine and riverine floodplain soils and sediments: A review

Biogeochemical factors affecting mercury methylation rate in two contaminated floodplain soils

Neutralization potency of monoclonal antibodies recognizing dominant and subdominant epitopes on SARS-CoV-2 Spike is impacted by the B.1.1.7 variant

Mesenchymal stem cells inhibit T-cell function through conserved induction of cellular stress

Butyrophilin-like proteins display combinatorial diversity in selecting and maintaining signature intraepithelial γδ T cell compartments

A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele

Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Tradeoffs and scaling of functional traits in Sphagnum as drivers of carbon cycling in peatlands

Genetics of neuromuscular fetal akinesia in the genomics era

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Critical review of dog detection and the influences of physiology, training, and analytical methodologies

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

The influence of vegetation on the horizontal and vertical distribution of pollutants in a street canyon

Cycles and Propagation of Deep Convection over Equatorial Africa

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

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