학술논문
'학술논문'
에서 검색결과 64건 | 목록
10~20
Periodical
Nicolle, Romain; Siquier-Pernet, Karine; Rio, Marlène; Guimier, Anne; Ollivier, Emmanuelle; Nitschke, Patrick; Bole-Feysot, Christine; Romana, Serge; Hastie, Alex; Cantagrel, Vincent; Malan, Valérie
European Journal of Human Genetics: EJHG; June 2022, Vol. 30 Issue: 6 p712-720, 9p
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Academic Journal
Guimier, Anne; Liu, Hui; Noll, Aaron; El Malti, Rajae; Smith, Laurie D; Jimenez, Gina; Miller, Neil A; Oufadem, Myriam; Moreau de Bellaing, Anne; Saunders, Carol J; Thiffault, Isabelle; Bole-Feysot, Christine; Cooley, Linda D; Farrow, Emily G; Masson, Cécile; Nitschké, Patrick; Lyonnet, Stanislas; de Pontual, Loic; Bonnet, Damien; Kingsmore, Stephen F
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Periodical
Guimier, Anne; Achleitner, Melanie T.; Moreau de Bellaing, Anne; Edwards, Matthew; de Pontual, Loïc; Mittal, Kirti; Dunn, Kyla E.; Grove, Megan E.; Tysoe, Carolyn J.; Dimartino, Clémantine; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L.; Knowles, Charlotte V.; Brett, Laura; Till, Jan A.; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A.; Lichkus, Kate S.; Sankaran, Bindu P.; Kennedy, Hannah L.; George, Peter M.; Kidd, Alexa; Wortmann, Saskia B.; Fisk, Dianna G.; Koopmann, Tamara T.; Rafiq, Muhammad A.; Merker, Jason D.; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G.; Ma, Alan S.; Turner, Christian; Ellaway, Carolyn J.; Phillips, Liza K.; Thorburn, David R.; Chung, Wendy K.; Kana, Sajel L.; Faye-Petersen, Ona M.; Thompson, Michelle L.; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.; Morris-Rosendahl, Deborah J.; Hurst, Anna C.E.; Turner, Claire L.S.; Hamilton, Robert M.; Taylor, Robert W.; Bajolle, Fanny; Gordon, Christopher T.; Amiel, Jeanne; Mayr, Johannes A.; Doudney, Kit
Genetics in Medicine; December 2021, Vol. 23 Issue: 12 p2415-2425, 11p
Academic Journal
Guimier, Anne; Ferrand, Sandrine; Pierron, Gaëlle; Couturier, Jérôme; Janoueix-Lerosey, Isabelle; Combaret, Valérie; Mosseri, Véronique; Thebaud, Estelle; Gambart, Marion; Plantaz, Dominique; Marabelle, Aurélien; Coze, Carole; Rialland, Xavier; Fasola, Sylvie; Lapouble, Eve; Fréneaux, Paul; Peuchmaur, Michel; Michon, Jean; Delattre, Olivier; Schleiermacher, Gudrun
Academic Journal
Bouhatous, Yordi-Michael; Bredrup, Cecilie; Rustad, Cecilie; Bardou, Marc; Maurer, Agnes; Luu, Maxime; Vabres, Pierre; Kurtz, Jean Emmanuel; Schaefer, Elise; Guimier, Anne; Cormier-Daire, Valerie; Demoulin, Jean-Baptiste; Lim, Derek; Nordgren, Ann; Aguirre-Rodriguez, Cristina; Hernandez-Dorronsoro, Unai; Martinez-Soroa, Itziar; Iznardo, Helena; Kalantari, Silvia; Mussa, Alessandro; Carli, Diana; Gawlinski, Pawel; Svinvik, Ingrid; Mutlu, Hatice; Bluefeather, Sara; Pond, Dinel; Zarate, Yuri; Wenger, Tara; Biesecker, Leslie; Kosaki, Kenjiro; Binquet, Christine; Foster, Alison; Faivre, Laurence
Academic Journal
Ranza, Emmanuelle; Guimier, Anne; Verloes, Alain; Capri, Yline; Marques, Charles; Auclair, Martine; Mathieu‐Dramard, Michèle; Morin, Gilles; Thevenon, Julien; Faivre, Laurence; Thauvin‐Robinet, Christel; Innes, A. Micheil; Dyment, David A.; Vigouroux, Corinne; Amiel, Jeanne
Academic Journal
Guimier, Anne; Gordon, Christopher T.; Hully, Marie; Blauwblomme, Thomas; Minard‐Colin, Véronique; Bole‐Feysot, Christine; Nitschké, Patrick; Oufadem, Myriam; Boddaert, Nathalie; Sarnacki, Sabine; Amiel, Jeanne
American Journal of Medical Genetics. Part A; Jul2019, Vol. 179 Issue 7, p1304-1309, 6p
Academic Journal
Guimier, Anne; de Pontual, Loic; Braddock, Stephen R.; Torti, Erin; Perez-Jurado, Luis A.; Munoz-Cabello, Patricia; Arumi, Montserrat; Monaghan, Kristin G.; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D.; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cecile; Houyel, Lucile; Cohen, Laurence; Lyonnet, Stanislas; Bajolle, Fanny; Amiel, Jeanne; Gordon, Christopher T.
Periodical
Lehalle, Daphné; Vabres, Pierre; Sorlin, Arthur; Bierhals, Tatjana; Avila, Magali; Carmignac, Virginie; Chevarin, Martin; Torti, Erin; Abe, Yuichi; Bartolomaeus, Tobias; Clayton-Smith, Jill; Cogné, Benjamin; Cusco, Ivon; Duplomb, Laurence; De Bont, Eveline; Duffourd, Yannis; Duijkers, Floor; Elpeleg, Orly; Fattal, Aviva; Geneviève, David; Guillen Sacoto, Maria J; Guimier, Anne; Harris, David J; Hempel, Maja; Isidor, Bertrand; Jouan, Thibaud; Kuentz, Paul; Koshimizu, Eriko; Lichtenbelt, Klaske; Loik Ramey, Valerie; Maik, Miriam; Miyakate, Sakoto; Murakami, Yoshiko; Pasquier, Laurent; Pedro, Helio; Simone, Laurie; Sondergaard-Schatz, Krista; St-Onge, Judith; Thevenon, Julien; Valenzuela, Irene; Abou Jamra, Rami; van Gassen, Koen; van Haelst, Mieke M; van Koningsbruggen, Silvana; Verdura, Edgard; Whelan Habela, Christa; Zacher, Pia; Rivière, Jean-Baptiste; Thauvin-Robinet, Christel; Betschinger, Joerg; Faivre, Laurence
Journal of Medical Genetics (JMG); 2020, Vol. 57 Issue: 12 p808-819, 12p
Academic Journal
Jackson, Carolyn C.; Lefèvre‐Utile, Alain; Guimier, Anne; Malan, Valérie; Bruneau, Julie; Gessain, Antoine; Cassar, Olivier; Amiel, Jeanne; Cobat, Aurélie; Rattina, Vimel; Abel, Laurent; Casanova, Jean‐Laurent; Blanche, Stéphane
American Journal of Medical Genetics. Part A; Jul2017, Vol. 173 Issue 7, p1858-1865, 8p
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[AR] Guimier, Anne
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