Présentation
Publications scientifiques
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2020Journal (source)Brain
YIF1B mutations cause a post-natal neurodevelopmental syndrome associated wit...
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2018Journal (source)EMBO Mol Med
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet ph...
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2018Journal (source)J Med Genet
.High predictive value of brain MRI imaging in primary mitochondrial respirato...
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2016Journal (source)Hum. Mol. Genet.
Mutations in BOREALIN cause thyroid dysgenesis.