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Role of a Contactin multi-molecular complex secreted by oligodendrocytes in nodal protein clustering in the CNS
Anne-Laure Dubessy
,
Elisa Mazuir
,
Quentin Rappeneau
,
Sokounthie Ou
,
Charly Abi Ghanem
et al.
Journal articles
hal-02399340v1
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Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
Raphael Carapito
,
Martina Konantz
,
Catherine Paillard
,
Zhichao Miao
,
Angélique Pichot
et al.
Journal articles
hal-02171273v1
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Role of a Contactin multi‐molecular complex secreted by oligodendrocytes in nodal protein clustering in the CNS
Anne-Laure Dubessy
,
Elisa Mazuir
,
Quentin Rappeneau
,
Sokounthie Ou
,
Charly Abi Ghanem
et al.
Journal articles
hal-02281755v1
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Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin
Chloé Latour
,
Céline Besson-Fournier
,
Delphine Meynard
,
Laura Silvestri
,
Ophélie Gourbeyre
et al.
Journal articles
hal-01887786v1
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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giuliana Giannuzzi
,
Paul Schmidt
,
Eleonora Porcu
,
Gilles Willemin
,
Katherine Munson
et al.
Journal articles
hal-02388582v1
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LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
Lisa Riley
,
Joëlle Rudinger-Thirion
,
Klaus Schmitz-Abe
,
David Thorburn
,
Ryan Davis
et al.
Book sections
hal-02294515v1
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The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
Lisa Riley
,
Matthew Heeney
,
Joëlle Rudinger-Thirion
,
Magali Frugier
,
Dean Campagna
et al.
Journal articles
hal-02118688v1
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