Résultat de recherche

Extracting 3D cell parameters from dense tissue environments: application to the development of the mouse heart.

Sigolène Meilhac

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Regionalization of the mouse visceral endoderm as the blastocyst transforms into the egg cylinder.

Sigolène Meilhac

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Right ventricular myocardium derives from the anterior heart field.

Sigolène Meilhac

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Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Benedetta RUZZENENTE, Lucas BIANCHI, Metodi METODIEV, Agnès Rötig

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Agnès Rötig, Stanislas Lyonnet, Jeanne Amiel

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.

Julie STEFFANN, Agnès Rötig, Arnold Munnich, Jean Paul BONNEFONT

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

Floriane PETIT, Stanislas Lyonnet, Agnès Rötig, Sandrine Marlin

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Genetic diagnosis of Mendelian disorders via RNA sequencing.

Agnès Rötig

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