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Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
Leana Doherty
,
Mee Rie Sheen
,
Adrianna Vlachos
,
Valérie Choesmel
,
Marie-Françoise O'Donohue
et al.
Journal articles
hal-02328188v1
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The Genetic Landscape of Diamond-Blackfan Anemia
Jacob Ulirsch
,
Jeffrey Verboon
,
Shideh Kazerounian
,
Michael Guo
,
Daniel Yuan
et al.
Journal articles
hal-02328160v1
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Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
Michael Landowski
,
Marie-Françoise O'Donohue
,
Christopher Buros
,
Roxanne Ghazvinian
,
Nathalie Montel-Lehry
et al.
Journal articles
hal-02327880v1
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Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
Hanna Gazda
,
Milena Preti
,
Mee Rie Sheen
,
Marie-Françoise O'Donohue
,
Adrianna Vlachos
et al.
Journal articles
hal-02328166v1
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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Hanna Gazda
,
Mee Rie Sheen
,
Adrianna Vlachos
,
Valérie Choesmel
,
Marie-Françoise O'Donohue
et al.
Journal articles
hal-02328204v1
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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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