학술논문
'학술논문'
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1~10
Academic Journal
In: Genes and Diseases . (Genes and Diseases, July 2024, 11(4))
Academic Journal
In: BMC Cardiovascular Disorders . (BMC Cardiovascular Disorders, December 2023, 23(1))
Academic Journal
Abaji, M.; Gorokhova, S.; Sigaudy, S.; Villard, L.; Mignon-Ravix, C.; Molinari, F.; Riccardi, F.; Cacciagli, P.; Mortreux, J.; Chabrol, B.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 October 2023, 60(10):1021-1025)
Academic Journal
Cerino, M.; Campana‐Salort, E.; Salvi, A.; Cintas, P.; Renard, D.; Juntas Morales, R.; Tard, C.; Leturcq, F.; Stojkovic, T.; Bonello‐Palot, N.; Gorokhova, S.; Mortreux, J.; Maues De Paula, A.; Lévy, N.; Pouget, J.; Cossée, M.; Bartoli, M.; Krahn, M.; Attarian, S.
Academic Journal
Sabbagh, Q.; Geneviève, D.; Cohen, J.-D.; Mortreux, J.; Raymond, L.; Geromel, V.; Boursier, G.; Jeziorski, E.; Le Moing, V.; Bessis, D.
In: Dermatitis . (Dermatitis, 1 December 2023, 34(6):561-563)
Academic Journal
Lessel, D.; Hassani Nia, F.; Martens, V.; Lüttgen, S.; Mannucci, I.; Lessel, I.; Schob, C.; Kindler, S.; Kubisch, C.; Kreienkamp, H.-J.; Zeitler, D.M.; Bruckmann, A.; Graus, V.; Meister, G.; Reijnders, M.R.F.; Willemsen, M.; Gardeitchik, T.; Brunner, H.G.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Sinnema, M.; Kazantsev, A.; Bartholomäus, A.; Ignatova, Z.; McConkie-Rosell, A.; McDonald, M.; Lozic, B.; Kovacevic, T.; Tan, E.-S.; Cham, B.W.M.; Gerkes, E.; Zonneveld-Huijssoon, E.; Lemmink, H.H.; Löhner, K.; Rump, P.; Johannsen, J.; Denecke, J.; Telegrafi, A.; McWalter, K.; Ramsdell, L.; Foss, K.; Le Duc, D.; Mitter, D.; Jamra, R.A.; Syrbe, S.; Merkenschlager, A.; Panis, B.; Lazier, J.; Dyment, D.A.; Boycott, K.M.; Osmond, M.; Hartley, T.; Mortreux, J.; Busa, T.; Missirian, C.; Prasun, P.; Pappas, J.; Rabin, R.; Dias, K.-R.; Evans, C.-A.; Roscioli, T.; Andrews, P.I.; Chijiwa, C.; Lewis, M.E.S.; Tan, E.-C.; Mirzaa, G.M.
In: Nature Communications . (Nature Communications, December 2020, 11(1))
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports
Academic Journal
Gorokhov, M.; Cerino, M.; Mortreux, J.; Riccardi, F.; Lévy, N.; Bartoli, M.; Krahn, M.; Gorokhova, S.
In: Scientific Reports . (Scientific Reports, 1 December 2020, 10(1))
Academic Journal
Mortreux, J.; Bacquet, J.; Boyer, A.; Alazard, E.; Cerino, M.; Krahn, M.; Béroud, C.; Nguyen, K.; Lévy, N.; Missirian, C.; Bonello-Palot, N.; Desvignes, J.P.; Delague, V.; Bellance, R.; Giguet-Valard, A.G.; Audic, F.; Chabrol, B.; Laugel, V.; Verschueren, A.; Attarian, S.
In: Journal of Human Genetics . (Journal of Human Genetics, 1 March 2020, 65(3):313-323)
Academic Journal
In: Clinical Dysmorphology . (Clinical Dysmorphology, 1 October 2019, 28(4):205-210)
Academic Journal
Karolak, J.A.; Scott, D.A.; Scaglia, F.; Liu, Q.; Coban Akdemir, Z.H.; Lupski, J.R.; Szafranski, P.; Stankiewicz, P.; Vincent, M.; Cogné, B.; Pichon, O.; Besnard, T.; Bénéteau, C.; Küry, S.; Bézieau, S.; Isidor, B.; Le Caignec, C.; Deutsch, G.; Gambin, T.; Vetrini, F.; Mefford, H.C.; Dines, J.N.; Dipple, K.; Freed, A.S.; Golden-Grant, K.; Leppig, K.A.; Dishop, M.; Mowat, D.; Gifford, A.J.; Bennetts, B.; Weber, M.A.; Lee, A.F.; Boerkoel, C.F.; Bartell, T.M.; Lipson, M.H.; Ward-Melver, C.; Petit, F.; Bache, I.; Tümer, Z.; Denis-Musquer, M.; Joubert, M.; Martinovic, J.; Molin, A.; Carles, D.; André, G.; Bieth, E.; Chassaing, N.; Devisme, L.; Chalabreysse, L.; Pasquier, L.; Secq, V.; Don, M.; Orsaria, M.; Missirian, C.; Mortreux, J.; Sanlaville, D.; Pons, L.; Liet, J.-M.; Joram, N.; Bihouée, T.; Brown, C.W.; Tsai, A.C.-H.; Grange, D.K.; Phillips, J.A.; Pfotenhauer, J.P.; Jhangiani, S.N.; Gonzaga-Jauregui, C.G.; Chung, W.K.; Schauer, G.M.; Mercer, C.L.; van Haeringen, A.; Popek, E.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 February 2019, 104(2):213-228)
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[AR] Mortreux, J.
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