학술논문
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: When exome sequencing reveals unexpected fetal phenotype-genotype correlations
Document Type
Article
Author
Lefebvre, M.; Bruel, A.-L.; Tisserant, E.; Bourgon, N.; Duffourd, Y.; Kuentz, P.; Assoum, M.; Moutton, S.; Philippe, C.; Tran Mau-Them, F.; Thevenon, J.; Faivre, L.; Thauvin-Robinet, C.; Vitobello, A.; Laurent, N.; Collardeau-Frachon, S.; Attie-Bitach, T.; Schaefer, E.; El Chehadeh, S.; Antal, M.C.; Kremer, V.; Girard-Lemaitre, F.; Mandel, J.-L.; Lehalle, D.; Nambot, S.; Jean-Marcąis, N.; Houcinat, N.; Marle, N.; Lambert, L.; Jonveaux, P.; Foliguet, B.; Mazutti, J.-P.; Gaillard, D.; Alanio, E.; Poirisier, C.; Lebre, A.-S.; Aubert-Lenoir, M.; Arbez-Gindre, F.; Odent, S.; Quélin, C.; Fradin, M.; Loget, P.; Willems, M.; Bigi, N.; Perez, M.-J.; Blesson, S.; Francannet, C.; Beaufrere, A.-M.; Patrier-Sallebert, S.; Guerrot, A.-M.; Goldenberg, A.; Brehin, A.-C.; Lespinasse, J.; Touraine, R.; Capri, Y.; Saint-Frison, M.-H.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 June 2021, 58(6):400-413)
Subject
Language
English
ISSN
14686244
00222593
00222593