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16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.214

2024

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COLLAGEN RELATED MUSCLE DISEASES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S67

2021

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COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S67-S67

2021

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P.140 - Clinical and histopathological characterization of the first French case of MATR3-related distal myopathy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S139-S139

2017

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Clinical and histopathological characterization of the first French case of MATR3 -related distal myopathy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S139

2017

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DISORDERS OF THE EXTRACELLULAR MATRIX

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S192-S193

2019

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DISORDERS OF THE EXTRACELLULAR MATRIX: P.381Sequencing the fibroblasts COL6A1-3 cDNAs versus gene panel genomic DNA in the diagnostic of COLVI related myopathies

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S192-S193

2019

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CONGENITAL MUSCULAR DYSTROPHIES: P.201 Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S105-S106

2020

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CONGENITAL MUSCULAR DYSTROPHIES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S105-S106

2020

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Understanding the Thermodynamic and Kinetic Behavior of the CO2/CH4 Gas Mixture within the Porous Zirconium Terephthalate UiO-66(Zr): A Joint Experimental and Modeling Approach

Journal of physical chemistry. C, 2011-07, Vol.115 (28), p.13768-13774

2011

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Probing the Dynamics of CO2 and CH4 within the Porous Zirconium Terephthalate UiO-66(Zr): A Synergic Combination of Neutron Scattering Measurements and Molecular Simulations

Chemistry : a European journal, 2011-08, Vol.17 (32), p.8882-8889

2011

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Molecular Insight into the Adsorption and Diffusion of Water in the Versatile Hydrophilic/Hydrophobic Flexible MIL-53(Cr) MOF

Journal of physical chemistry. C, 2011-06, Vol.115 (21), p.10764-10776

2011

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Adsorption and Diffusion of Light Hydrocarbons in UiO-66(Zr): A Combination of Experimental and Modeling Tools

Journal of physical chemistry. C, 2014-11, Vol.118 (47), p.27470-27482

2014

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Quantum Effects on Adsorption and Diffusion of Hydrogen and Deuterium in Microporous Materials

The journal of physical chemistry. B, 2006-08, Vol.110 (33), p.16666-16671

2006

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Preparation by electrophoretic deposition of molybdenum iodide cluster-based functional nanostructured photoelectrodes for solar cells

Electrochimica acta, 2019-09, Vol.317, p.737-745

2019

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Patent Foramen Ovale Closure or Anticoagulation vs. Antiplatelets after Stroke

The New England journal of medicine, 2017-09, Vol.377 (11), p.1011-1021

2017

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Kinetics of Coloration in Photochromic Organoammonium Polyoxomolybdates

Inorganic chemistry, 2009-01, Vol.48 (2), p.574-580

2009

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Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature

European journal of medical genetics, 2022-09, Vol.65 (9), p.104559-104559, Article 104559

2022

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Direct 2H NMR Observation of the Proton Mobility of the Acidic Sites of Anhydrous 12-Tungstophosphoric Acid

Chemphyschem, 2013-06, Vol.14 (9), p.1783-1786

2013

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Synthesis, Characterization, and Photochromic Properties of Hybrid Organic−Inorganic Materials Based on Molybdate, DABCO, and Piperazine

Inorganic chemistry, 2007-04, Vol.46 (7), p.2824-2835

2007

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Contemporary Presentation and Management of Valvular Heart Disease: The EURObservational Research Programme Valvular Heart Disease II Survey

Circulation (New York, N.Y.), 2019-10, Vol.140 (14), p.1156-1169

2019

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Probing the Dynamics of the Porous Zr Terephthalate UiO-66 Framework Using H-2 NMR and Neutron Scattering

Journal of physical chemistry. C, 2012-06, Vol.116, p.12131-12136

2012

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Dynamics of Benzene Rings in MIL-53(Cr) and MIL-47(V) Frameworks Studied by H-2 NMR Spectroscopy

Angewandte Chemie International Edition, 2010, Vol.49 (28), p.4791-4794

2010

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Characterization and Dynamics of the Different Protonic Species in Hydrated 12-Tungstophosphoric Acid Studied by H-2 NMR

Journal of physical chemistry. C, 2014-12, Vol.118 (51), p.30023-30033

2014

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Eplerenone in Patients with Systolic Heart Failure and Mild Symptoms

The New England journal of medicine, 2011-01, Vol.364 (1), p.11-21

2011

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16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy

COLLAGEN RELATED MUSCLE DISEASES

COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis

P.140 - Clinical and histopathological characterization of the first French case of MATR3-related distal myopathy

Clinical and histopathological characterization of the first French case of MATR3 -related distal myopathy

DISORDERS OF THE EXTRACELLULAR MATRIX

DISORDERS OF THE EXTRACELLULAR MATRIX: P.381Sequencing the fibroblasts COL6A1-3 cDNAs versus gene panel genomic DNA in the diagnostic of COLVI related myopathies

CONGENITAL MUSCULAR DYSTROPHIES: P.201 Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies

CONGENITAL MUSCULAR DYSTROPHIES

Understanding the Thermodynamic and Kinetic Behavior of the CO2/CH4 Gas Mixture within the Porous Zirconium Terephthalate UiO-66(Zr): A Joint Experimental and Modeling Approach

Probing the Dynamics of CO2 and CH4 within the Porous Zirconium Terephthalate UiO-66(Zr): A Synergic Combination of Neutron Scattering Measurements and Molecular Simulations

Molecular Insight into the Adsorption and Diffusion of Water in the Versatile Hydrophilic/Hydrophobic Flexible MIL-53(Cr) MOF

Adsorption and Diffusion of Light Hydrocarbons in UiO-66(Zr): A Combination of Experimental and Modeling Tools

Quantum Effects on Adsorption and Diffusion of Hydrogen and Deuterium in Microporous Materials

Preparation by electrophoretic deposition of molybdenum iodide cluster-based functional nanostructured photoelectrodes for solar cells

Patent Foramen Ovale Closure or Anticoagulation vs. Antiplatelets after Stroke

Kinetics of Coloration in Photochromic Organoammonium Polyoxomolybdates

Catatonic syndrome and Baraitser Winter syndrome: Case report and review of the literature

Direct 2H NMR Observation of the Proton Mobility of the Acidic Sites of Anhydrous 12-Tungstophosphoric Acid

Synthesis, Characterization, and Photochromic Properties of Hybrid Organic−Inorganic Materials Based on Molybdate, DABCO, and Piperazine

Contemporary Presentation and Management of Valvular Heart Disease: The EURObservational Research Programme Valvular Heart Disease II Survey

Probing the Dynamics of the Porous Zr Terephthalate UiO-66 Framework Using H-2 NMR and Neutron Scattering

Dynamics of Benzene Rings in MIL-53(Cr) and MIL-47(V) Frameworks Studied by H-2 NMR Spectroscopy

Characterization and Dynamics of the Different Protonic Species in Hydrated 12-Tungstophosphoric Acid Studied by H-2 NMR

Eplerenone in Patients with Systolic Heart Failure and Mild Symptoms

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