List of works - Perrine Brunelle - Paulina

List of works by Perrine Brunelle

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.

scientific article published on 22 January 2018

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations

scientific article published on 23 September 2019

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

scientific article published on 30 March 2020

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

scientific article published on 03 May 2019

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