Doray, Bérénice
Hôpital d'Hautepierre
3 papers on CoChat
Most cited papers
- Verified
Delineation of 15q13.3 microdeletions.
Masurel‐Paulet, A., Andrieux, J., Callier, P., Cuisset, J., Le Caignec, C., Holder, M., Thauvin‐Robinet, C., Doray, B., Flori, E., Alex‐Cordier, M., et al. (2010) · Clinical Genetics
Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders
Cited by 145
- Verified
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
Bruel, A.-L., Franco, B., Duffourd, Y., Thevenon, J., Jego, L., Lopez, E., Deleuze, J.-F., Doummar, D., Giles, R. H., Johnson, C. A., et al. (2017) · Journal of Medical Genetics
Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances
Cited by 115
- Verified
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome
Cartault, F., Munier, P., Jacquemont, M.-L., Vellayoudom, J., Doray, B., Payet, C., Randrianaivo, H., Laville, J.-M., Munnich, A., & Cormier-Daire, V. (2015) · European Journal of Human Genetics
Connective tissue disorders researchProteoglycans and glycosaminoglycans research
Cited by 75
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