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Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Alexandre Benmerah

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Damien Bonnet, Patrick Nitschké, Chris Gordon, Anne Guimier

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Agnès Rötig, Stanislas Lyonnet, Jeanne Amiel

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Marlène Rio, Arnold Munnich, Agnès Rötig, Lucas BIANCHI, Jean-Michel Rozet

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Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse.

Nicolas Garcelon, Antoine Neuraz, Vincent Benoit

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Achondroplasia: Development, pathogenesis, and therapy.

Laurence Legeai-Mallet

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LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Frédéric Rieux-Laucat

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Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases.

Alexandre Alcaïs

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Transcriptional, epigenetic and retroviral signatures identify regulatory regions involved in hematopoietic lineage commitment.

Annarita Miccio

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Cécile Jeanpierre

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Tuning Eye-Gaze Perception by Transitory STS Inhibition.

Monica Zilbovicius , Monica Zilbovicius , Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Nathalie Boddaert

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Camille Maillard, Despina Moshous, Marlène Rio, Nathalie Boddaert, Sophie Thomas, Nadia Bahi-Buisson

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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Camille Maillard, Sophie Thomas, Nadia Bahi-Buisson

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Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth.

Laurent GUILLEMOT, Sigolène Meilhac

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