Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients

por Baux, D., Vaché, C., Blanchet, C., Willems, M., Baudoin, C., Moclyn, M., Faugère, V., Touraine, R., Isidor, B., Dupin-Deguine, D., Nizon, M., Vincent, M., Mercier, S., Calais, C., García-García, G., Azher, Z., Lambert, L., Perdomo-Trujillo, Y., Giuliano, F., Claustres, M., Koenig, M., Mondain, M., Roux, A. F.
Publicado 2017

Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach

por Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.
Publicado 2022