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Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

European journal of human genetics : EJHG, 2016-01, Vol.25 (1), p.52-58

2016

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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Human molecular genetics, 2010-05, Vol.19 (10), p.2015-2027

2010

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Analysis of Post-transcriptional Regulations by a Functional, Integrated, and Quantitative Method

Molecular & cellular proteomics, 2009-08, Vol.8 (8), p.1777-1788

2009

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Friedreich ataxia: the oxidative stress paradox

Human molecular genetics, 2005-02, Vol.14 (4), p.463-474

2005

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Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL)

Thrombosis research, 2023-09, Vol.229, p.107-113

2023

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SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism

Journal of investigative dermatology, 2014-02, Vol.134 (2), p.568-571

2014

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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Nature genetics, 2001-02, Vol.27 (2), p.181-186

2001

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Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

The Journal of neuroscience, 2004-02, Vol.24 (8), p.1987-1995

2004

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High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

Pigment cell and melanoma research, 2014-01, Vol.27 (1), p.59-71

2014

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High‐resolution array‐ CGH in patients with oculocutaneous albinism identifies new deletions of the TYR , OCA 2 , and SLC 45A2 genes and a complex rearrangement of the OCA 2 gene

Pigment cell and melanoma research, 2014-01, Vol.27 (1), p.59-71

2014

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Economic analysis of the potential of cellulosic biomass available in France from agricultural residue and energy crops

Bioenergy research, 2010, Vol.3 (2), p.183-193

2010

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Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi Syndrome patients

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.843-847

2007

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Mice Lacking Wasp-Interacting Protein Evolve Anti-Platelet IgAs That Impair Platelet Responses Mediated by the Collagen Receptor GPVI

Blood, 2008-11, Vol.112 (11), p.1231-1231

2008

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2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

European journal of medical genetics, 2009-11, Vol.52 (6), p.446-449

2009

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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Human molecular genetics, 2010-09, Vol.19 (17), p.3489-3490

2010

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Plant transposable elements, with an emphasis on grass species

Euphytica, 2004-02, Vol.139 (3), p.227-247

2004

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Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments

Human mutation, 2006-11, Vol.27 (11), p.1143-1150

2006

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Economic analysis of the potential of cellulosic biomass in France from agricultural residues and energy crops

Simon, Delphine E

2009

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Bear market drives search for safety

The Banker, 2004-07, p.10

Simon, Delphine

2004

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Vascular Endothelial Damage in the Pathogenesis of Organ Injury in Severe COVID-19

Arteriosclerosis, thrombosis, and vascular biology, 2021-05, Vol.41 (5), p.1760

2021

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Reduced sensitivity of SARS-CoV-2 variant Delta to antibody neutralization

Nature (London), 2021-08, Vol.596 (7871), p.276-280

2021

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Maternal high-fat diet during suckling programs visceral adiposity and epigenetic regulation of adipose tissue stearoyl-CoA desaturase-1 in offspring

International Journal of Obesity, 2019-12, Vol.43 (12), p.2381-2393

2019

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Prevalence of Symptoms More Than Seven Months After Diagnosis of Symptomatic COVID-19 in an Outpatient Setting

Annals of internal medicine, 2021-09, Vol.174 (9), p.1252

2021

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Individual dispersal, landscape connectivity and ecological networks

Biological reviews of the Cambridge Philosophical Society, 2013-05, Vol.88 (2), p.310-326

2013

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Annual time-series analysis of aqueous eDNA reveals ecologically relevant dynamics of lake ecosystem biodiversity

Nature communications, 2017-01, Vol.8 (1), p.14087-14087, Article 14087

2017

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Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Analysis of Post-transcriptional Regulations by a Functional, Integrated, and Quantitative Method

Friedreich ataxia: the oxidative stress paradox

Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL)

SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Friedreich Ataxia Mouse Models with Progressive Cerebellar and Sensory Ataxia Reveal Autophagic Neurodegeneration in Dorsal Root Ganglia

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

High‐resolution array‐ CGH in patients with oculocutaneous albinism identifies new deletions of the TYR , OCA 2 , and SLC 45A2 genes and a complex rearrangement of the OCA 2 gene

Economic analysis of the potential of cellulosic biomass available in France from agricultural residue and energy crops

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi Syndrome patients

Mice Lacking Wasp-Interacting Protein Evolve Anti-Platelet IgAs That Impair Platelet Responses Mediated by the Collagen Receptor GPVI

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Plant transposable elements, with an emphasis on grass species

Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments

Economic analysis of the potential of cellulosic biomass in France from agricultural residues and energy crops

Bear market drives search for safety

Vascular Endothelial Damage in the Pathogenesis of Organ Injury in Severe COVID-19

Reduced sensitivity of SARS-CoV-2 variant Delta to antibody neutralization

Maternal high-fat diet during suckling programs visceral adiposity and epigenetic regulation of adipose tissue stearoyl-CoA desaturase-1 in offspring

Prevalence of Symptoms More Than Seven Months After Diagnosis of Symptomatic COVID-19 in an Outpatient Setting

Individual dispersal, landscape connectivity and ecological networks

Annual time-series analysis of aqueous eDNA reveals ecologically relevant dynamics of lake ecosystem biodiversity

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