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16 results on '"Devisme, Louise"'

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1. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

2. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

3. Association of Chorioamnionitis with Cerebral Palsy at Two Years after Spontaneous Very Preterm Birth: The EPIPAGE-2 Cohort Study

4. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

8. Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

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