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List of works by Mathilde Huckert

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.

scientific article published on 28 May 2019

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

scientific article

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

scientific article published on 26 July 2016

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

scientific article published on 2 March 2016

Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

scientific article

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

scientific article published on 10 February 2015

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations ⬇️

scientific article

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