Centre Hospitalier Universitaire de Nantes
6 papers found
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
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