Flori, Elisabeth

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., & Dollfus, H. (2009) · Proceedings of the National Academy of Sciences

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

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Severe combined immunodeficiency caused by deficiency in either the δ or the ε subunit of CD3

Basile, G. D. S., Geissmann, F., Flori, E., Uring-Lambert, B., Soudais, C., Cavazzana-Calvo, M., Durandy, A., Jabado, N., Fischer, A., & Deist, F. L. (2004) · Journal of Clinical Investigation

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

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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

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Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

Gruchy, N., Vialard, F., Blondeel, E., Le Meur, N., Joly‐Hélas, G., Chambon, P., Till, M., Herbaut‐Graux, M., Vigouroux‐Castera, A., Coussement, A., et al. (2014) · Prenatal Diagnosis

Prenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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