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List of works by Agnès Bloch-Zupan

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

scientific article

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

scientific article

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

scientific article

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

scientific article

Otodental syndrome

scientific article

Phenotypic and evolutionary implications of modulating the ERK-MAPK cascade using the dentition as a model

scientific article

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

scientific article (publication date: 15 October 2007)

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