Florence Jobic
0000-0003-4490-8224
3 papers found
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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation
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