학술논문
'학술논문'
에서 검색결과 40건 | 목록
1~10
Academic Journal
Coursimault, Juliette; Guerrot, Anne-Marie; Morrow, Michelle M.; Schramm, Catherine; Zamora, Francisca Millan; Shanmugham, Anita; Liu, Shuxi; Zou, Fanggeng; Bilan, Frédéric; Le Guyader, Gwenaël; Bruel, Ange-Line; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Tran Mau-Them, Frédéric; Tessarech, Marine; Colin, Estelle; El Chehadeh, Salima; Gérard, Bénédicte; Schaefer, Elise; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Doummar, Diane; Valence, Stéphanie; Héron, Delphine; Keren, Boris; Mignot, Cyril; Coutton, Charles; Devillard, Françoise; Alaix, Anne-Sophie; Amiel, Jeanne; Colleaux, Laurence; Munnich, Arnold; Poirier, Karine; Rio, Marlène; Rondeau, Sophie; Barcia, Giulia; Callewaert, Bert; Dheedene, Annelies; Kumps, Candy; Vergult, Sarah; Menten, Björn; Chung, Wendy K.; Hernan, Rebecca; Larson, Austin; Nori, Kelly; Stewart, Sarah; Wheless, James; Kresge, Christina; Pletcher, Beth A.; Caumes, Roseline; Smol, Thomas; Sigaudy, Sabine; Coubes, Christine; Helm, Margaret; Smith, Rosemarie; Morrison, Jennifer; Wheeler, Patricia G.; Kritzer, Amy; Jouret, Guillaume; Afenjar, Alexandra; Deleuze, Jean-François; Olaso, Robert; Boland, Anne; Poitou, Christine; Frebourg, Thierry; Houdayer, Claude; Saugier-Veber, Pascale; Nicolas, Gaël; Lecoquierre, François
Human Genetics. 141(1):65-80
Academic Journal
Ha, Thoa; Morgan, Angela; Bartos, Meghan N.; Beatty, Katelyn; Cogné, Benjamin; Braun, Dominique; Gerber, Céline B.; Gaspar, Harald; Kopps, Anna M.; Rieubland, Claudine; Hurst, Anna C. E.; Amor, David J.; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, André; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L.; Vincent, Marie
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p
Academic Journal
Tessarech, M.; Guichet, A.; Bris, C.; Procaccio, V.; Bonneau, D.; Colin, E.; Le Mao, M.; Díaz, R.M.; Lenaers, G.; Khiati, S.; Friocourt, G.; Ferec, C.; Marguet, F.; Lecointre, M.; Gonzalez, B.; Laquerriere, A.; Mignot, C.; Keren, B.; Héron, B.; De Bie, C.; Van Gassen, K.; Loisel, D.; Delorme, B.; Syrbe, S.; Klabunde-Cherwon, A.; Jamra, R.A.; Wegler, M.; Callewaert, B.; Dheedene, A.; Zidane-Marinnes, M.; Van Bogaert, P.; Biquard, F.; Marcorelles, P.; Vitobello, A.
In: Genetics in Medicine . (Genetics in Medicine, May 2024, 26(5))
Academic Journal
Milon, V.; Malinge, M.-C.; Blanluet, M.; Tessarech, M.; Battault, C.; Prestwich, S.; Vary, B.; Gueracher, P.; Legoff, L.; Barth, M.; Houdayer, C.; Guichet, A.; Bonneau, D.; Procaccio, V.; Bris, C.; Colin, E.; Rousseau, A.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 2024)
Periodical
Al-Jawahiri, Reem; Foroutan, Aidin; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Haghshenas, Sadegheh; Rooney, Kathleen; Turner, Jasmin; Shears, Debbie; Holder, Muriel; Lefroy, Henrietta; Castle, Bruce; Reis, Linda M.; Semina, Elena V.; Nickerson, Deborah; Bamshad, Michael; Leal, Suzanne; Lachlan, Katherine; Chandler, Kate; Wright, Thomas; Clayton-Smith, Jill; Hug, Franziska Phan; Pitteloud, Nelly; Bartoloni, Lucia; Hoffjan, Sabine; Park, Soo-Mi; Thankamony, Ajay; Lees, Melissa; Wakeling, Emma; Naik, Swati; Hanker, Britta; Girisha, Katta M.; Agolini, Emanuele; Giuseppe, Zampino; Alban, Ziegler; Tessarech, Marine; Keren, Boris; Afenjar, Alexandra; Zweier, Christiane; Reis, Andre; Smol, Thomas; Tsurusaki, Yoshinori; Nobuhiko, Okamoto; Sekiguchi, Futoshi; Tsuchida, Naomi; Matsumoto, Naomichi; Kou, Ikuyo; Yonezawa, Yoshiro; Ikegawa, Shiro; Callewaert, Bert; Freeth, Megan; Ambrose, John C.; Arumugam, Prabhu; Bevers, Roel; Bleda, Marta; Boardman-Pretty, Freya; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Elgar, Greg; Fowler, Tom; Giess, Adam; Hamblin, Angela; Henderson, Shirley; Hubbard, Tim J.P.; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Leigh, Sarah E.A.; Leong, Ivonne U.S.; Lopez, Javier F.; FionaMaleady-Crowe; McEntagart, Meriel; Minneci, Federico; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O’Donovan, Peter; Odhams, Chris A.; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Pullinger, John; TahrimaRahim; Rendon, Augusto; TimRogers; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smith, Samuel C.; Sosinsky, Alona; Stuckey, Alexander; Tanguy, Mélanie; Taylor Tavares, Ana Lisa; Thomas, Ellen R.A.; Thompson, Simon R.; Tucci, Arianna; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Kleinendorst, Lotte; Donaldson, Alan; Alders, Marielle; De Paepe, Anne; Sadikovic, Bekim; McNeill, Alisdair
Genetics in Medicine; June 2022, Vol. 24 Issue: 6 p1261-1273, 13p
Academic Journal
Hijazi, H.; Pehlivan, D.; Li, Y.; Fatih, J.M.; Marafi, D.; Rosenfeld, J.A.; Coban-Akdemir, Z.; Bi, W.; Gibbs, R.A.; Carvalho, C.M.B.; Posey, J.E.; Lupski, J.R.; Reis, L.M.; Muriello, M.; Syverson, E.; Semina, E.V.; Bernstein, J.A.; Bonner, D.; Estiar, M.A.; Gan-Or, Z.; Rouleau, G.A.; Lyulcheva, E.; Greenhalgh, L.; Tessarech, M.; Colin, E.; Guichet, A.; Bonneau, D.; van Jaarsveld, R.H.; Lachmeijer, A.M.A.; Ruaud, L.; Levy, J.; Tabet, A.-C.; Ploski, R.; Rydzanicz, M.; Kępczyński, Ł.; Połatyńska, K.; Hobson, G.M.; Hunter, J.V.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 December 2022, 109(12):2270-2282)
Academic Journal
Al-Jawahiri, R.; Freeth, M.; Foroutan, A.; Kerkhof, J.; McConkey, H.; Levy, M.; Haghshenas, S.; Rooney, K.; Sadikovic, B.; Turner, J.; Shears, D.; Holder, M.; Lefroy, H.; Castle, B.; Reis, L.M.; Semina, E.V.; Lachlan, K.; Chandler, K.; Wright, T.; Clayton-Smith, J.; Hug, F.P.; Pitteloud, N.; Bartoloni, L.; Hoffjan, S.; Park, S.-M.; Thankamony, A.; Lees, M.; Wakeling, E.; Naik, S.; Hanker, B.; Girisha, K.M.; Agolini, E.; Giuseppe, Z.; Alban, Z.; Tessarech, M.; Keren, B.; Afenjar, A.; Zweier, C.; Reis, A.; Smol, T.; Tsurusaki, Y.; Nobuhiko, O.; Sekiguchi, F.; Tsuchida, N.; Matsumoto, N.; Kou, I.; Yonezawa, Y.; Ikegawa, S.; Callewaert, B.; De Paepe, A.; Kleinendorst, L.; Donaldson, A.; Alders, M.; McNeill, A.; Nickerson, D.; Bamshad, M.; Leal, S.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, J.F.; FionaMaleady-Crowe; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O'Donovan, P.; Odhams, C.A.; Patch, C.; Pereira, M.B.; Perez-Gil, D.; Pullinger, J.; TahrimaRahim; Rendon, A.; TimRogers; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.
In: Genetics in Medicine . (Genetics in Medicine, June 2022, 24(6):1261-1273)
Conference
EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1):226-226
Academic Journal
Tessarech, M.; Gorce, M.; Guichet, A.; Ziegler, A.; Bris, C.; Reynier, P.; Procaccio, V.; Bonneau, D.; Colin, E.; Boussion, F.; Bault, J.-P.; Triau, S.; Charif, M.; Khiaty, S.; Delorme, B.; Laquerrière, A.; Fallet-Bianco, C.; Jacquette, A.; Salhi, H.; Héron, D.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 1 March 2020, 182(3):565-569)
Academic Journal
Tessarech, M.; Gorce, M.; Boussion, F.; Triau, S.; Khiati, S.; Charif, M.; Guichet, A.; Ziegler, A.; Fallet-Bianco, C.; Salhi, H.; Bonneau, D.; Colin, E.
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