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Publications by Valérie Cormier-Daire

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2018English

Clinical Utility Gene Card For: 3-M Syndrome - Update 2013

European Journal of Human Genetics
Genetics
2013English

Holt-Oram Syndrome: Clinical and Molecular Description of 78 Patients With TBX5 Variants

European Journal of Human Genetics
Genetics
2018English

New Perspectives on the Treatment of Skeletal Dysplasia

Therapeutic Advances in Endocrinology and Metabolism
EndocrinologyMetabolismDiabetes
2020English

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics
Genetics
2004English

Prenatal Diagnosis in CDG1 Families: Beware of Heterogeneity

European Journal of Human Genetics
Genetics
1998English

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