Présentation
Publications scientifiques
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2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
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2022
Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 ..., Hum Mol Genet
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2022
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
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2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct,..., Am J Hum Genet
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2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy., J Clin Invest
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2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet
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2016
Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis