Huet, F
5 papers on CoChatORCID 0009-0003-0252-1264
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
The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
Courcet, J.-B., Faivre, L., Malzac, P., Masurel-Paulet, A., Lopez, E., Callier, P., Lambert, L., Lemesle, M., Thevenon, J., Gigot, N., et al. (2012) · Journal of Medical Genetics
Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research
Cited by 121
- Verified
X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood
Fiot, E., Zénaty, D., Boizeau, P., Haignere, J., Dos Santos, S., Léger, J., _, _., _, _., Carel, J. C., Cabrol, S., et al. (2019) · European Journal of Endocrinology
Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders
Cited by 48
- Verified
Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I
Saal, S., Faivre, L., Aral, B., Gigot, N., Toutain, A., Van Maldergem, L., Destree, A., Maystadt, I., Cosyns, J., Jouk, P., et al. (2010) · Clinical Genetics
Genetic and Kidney Cyst DiseasesGenomics and Rare Diseases
Cited by 36
- Verified
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation
Faivre, L., Saugier-Veber, P., Pais de Barros, J.-P., Verges, B., Couret, B., Lorcerie, B., Thauvin, C., Charbonnier, F., Huet, F., Gambert, P., et al. (2005) · European Journal of Human Genetics
Lipid metabolism and disordersLysosomal Storage Disorders Research
Cited by 34
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