AttributesValues
Author
Bibliographic Citation
  • Lefebvre M., Bruel A. L., Tisserant E., Bourgon N., Duffourd Y., Collardeau-Frachon S., Attie-Bitach T., Kuentz P., Assoum M., Schaefer E., El Chehadeh S., Antal M. C., Kremer V., Girard-Lemaitre F., Mandel J. L., Lehalle D., Nambot S., Jean-Marcais N., Houcinat N., Moutton S., 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., Quelin C., Loget P., Fradin M., 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., Laurent N., Philippe C., Tran Mau-Them F., Thevenon J., Faivre L., Thauvin-Robinet C., Vitobello A.. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
  • LefebvreM., BruelA . L., TisserantE., BourgonN., DuffourdY., Collardeau-FrachonS., Attie-BitachT., KuentzP., AssoumM., SchaeferE., El ChehadehS., AntalM . C., KremerV., Girard-LemaitreF., MandelJ . L., LehalleD., NambotS., Jean-MarcaisN., HoucinatN., MouttonS., MarleN., LambertL., JonveauxP., FoliguetB., MazuttiJ . P., GaillardD., AlanioE., PoirisierC., LebreA . S., Aubert-LenoirM., Arbez-GindreF., OdentS., QuelinC., LogetP., FradinM., WillemsM., BigiN., PerezM . J., BlessonS., FrancannetC., BeaufrereA . M., Patrier-SallebertS., GuerrotA . M., GoldenbergA., BrehinA . C., LespinasseJ., TouraineR., CapriY., Saint-FrisonM . H., LaurentN., PhilippeC., Tran Mau-ThemF., ThevenonJ., FaivreL., Thauvin-RobinetC., VitobelloA. . Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations . Journal of Medical Genetics, 2021, 58 (6), pp.400-413 . ⟨10.1136/jmedgenet-2020-106867⟩
  • Lefebvre M., Bruel A . L., Tisserant E., Bourgon N., Duffourd Y., Collardeau-Frachon S., Attie-Bitach T., Kuentz P., Assoum M., Schaefer E., El Chehadeh S., Antal M . C., Kremer V., Girard-Lemaitre F., Mandel J . L., Lehalle D., Nambot S., Jean-Marcais N., Houcinat N., Moutton S., 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., Quelin C., Loget P., Fradin M., 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., Laurent N., Philippe C., Tran Mau-Them F., Thevenon J., Faivre L., Thauvin-Robinet C., Vitobello A. . Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations . Journal of Medical Genetics, 2021, 58 (6), pp.400-413 . ⟨10.1136/jmedgenet-2020-106867⟩
  • Lefebvre M., Bruel A. L., Tisserant E., Bourgon N., Duffourd Y., Collardeau-Frachon S., Attie-Bitach T., Kuentz P., Assoum M., Schaefer E., El Chehadeh S., Antal M. C., Kremer V., Girard-Lemaitre F., Mandel J. L., Lehalle D., Nambot S., Jean-Marcais N., Houcinat N., Moutton S., 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., Quelin C., Loget P., Fradin M., 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., Laurent N., Philippe C., Tran Mau-Them F., Thevenon J., Faivre L., Thauvin-Robinet C., Vitobello A.. Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Title
  • Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
dc:date
  • 2020
  • 2021
Digital Object Identifier (DOI)
  • 10.1136/jmedgenet-2020-106867
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