Présentation
Publications scientifiques
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2023Journal (source)BloodDOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
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2021Journal (source)Cell Rep Med
Compromised mitochondrial quality control triggers lipin1-related rhabdomyoly...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2020Journal (source)J. Bone Miner. Res.
Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation Dur...
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2018Journal (source)Front Immunol
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulat...