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authFullName_s : Mark Fleming
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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

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 of Clinical Investigation, 2017, 127 (11), pp.4090-4103. ⟨10.1172/JCI92876⟩
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.
Glia, In press, ⟨10.1002/glia.23681⟩
Journal articles hal-02281755v1

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.
Hepatology, 2016, 63 (1), pp.126 - 137. ⟨10.1002/hep.28254⟩
Journal articles hal-01887786v1

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.
American Journal of Human Genetics, 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩
Journal articles hal-02388582v1

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.
JIMD Reports, Volume 28 pp 49-57, pp.49-57, 2015, ⟨10.1007/8904_2015_515⟩
Book sections hal-02294515v1

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.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1