Présentation
Publications scientifiques
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2020
Early-onset autoimmunity associated with SOCS1 haploinsufficiency., Nat Commun
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2019
Loss of ARHGEF1 causes a human primary antibody deficiency., J Clin Invest
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2017
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease., Am J Hum Genet
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2017
Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol