Publications by authors named "Louis Domenach"

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De novo variants in cause a syndromic neurodevelopmental disorder.
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Louis Domenach

medRxiv· April 2025

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Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign.
Louis Domenach, Caroline Rooryck, Marine Legendre, Hanane Bouchghoul, Claire Beneteau

BMC Med Genomics· February 2025

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Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.
Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche

Front Genet· September 2024

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