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Your search keyword '"Rieubland, Claudine"' showing total 6 results

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6 results on '"Rieubland, Claudine"'

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1. Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

2. SCN5A mutations in 442 neonates and children: Genotype-phenotype correlation and identification of higher-risk subgroups

3. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

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