학술논문
'학술논문'
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1~10
Academic Journal
Lecoquierre, François; Punt, A. Mattijs; Ebstein, Frédéric; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Sébastien; Tran Mau-Them, Frédédic; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Martinez Ojeda, Mayra; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krüger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C.; Matos Ruiz, Paola M.; Pratt, Brandon M.; England, Eleina M.; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A.; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S.; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M.; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R.; Foster, Emma E.; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W.; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E.; MacArthur, Daniel G.; O’Donnell-Luria, Anne; Robson, Caroline D.; Hunter, David G.; Engle, Elizabeth C.
In Genetics in Medicine July 2024
Periodical
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics; March 2024, Vol. 56 Issue: 3 p395-407, 13p
Academic Journal
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Academic Journal
Alburaiky, Salam; Taylor, Juliet; O'Grady, Gina; Thomson, Glen; Perry, David; England, Eleina M.; Yap, Patrick
American Journal of Medical Genetics. Part A; Aug2022, Vol. 188 Issue 8, p2460-2465, 6p
Academic Journal
Natera‐de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai‐Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hunter, David G.; Feng, Lucy; Ledoux, Danielle; O'Donnell‐Luria, Anne
Human Mutation; Apr2022, Vol. 43 Issue 4, p487-498, 12p
Periodical
Gafner, Michal; Michelson, Marina; Argilli, Emanuela; Yosovich, Keren; Sherr, Elliott H.; Parks, Kendall C.; England, Eleina M.; Hady-Cohen, Ronen; Leibovitz, Zvi; Lev, Dorit; Michaeli-Yosef, Yael; Lerman-Sagie, Tally; Blumkin, Lubov
Journal of Human Genetics; February 2022, Vol. 67 Issue: 2 p95-101, 7p
Academic Journal
Coppens, Sandra; Barnard, Alison M.; Puusepp, Sanna; Pajusalu, Sander; Õunap, Katrin; Vargas-Franco, Dorianmarie; Bruels, Christine C.; Donkervoort, Sandra; Pais, Lynn; Chao, Katherine R.; Goodrich, Julia K.; England, Eleina M.; Weisburd, Ben; Ganesh, Vijay S.; Gudmundsson, Sanna; O'Donnell-Luria, Anne; Nigul, Mait; Ilves, Pilvi; Mohassel, Payam; Siddique, Teepu
Periodical
Jurgens, Julie A.; Barry, Brenda J.; Lemire, Gabrielle; Chan, Wai-Man; Whitman, Mary C.; Shaaban, Sherin; Robson, Caroline D.; MacKinnon, Sarah; England, Eleina M.; McMillan, Hugh J.; Kelly, Christopher; Pratt, Brandon M.; O’Donnell-Luria, Anne; MacArthur, Daniel G.; Boycott, Kym M.; Hunter, David G.; Engle, Elizabeth C.
European Journal of Human Genetics: EJHG; May 2021, Vol. 29 Issue: 5 p816-826, 11p
Periodical
Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C.; Matos Ruiz, Paola M.; Pratt, Brandon M.; England, Eleina M.; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A.; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S.; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M.; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R.; Foster, Emma E.; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W.; Weisburd, Ben; Lek, Monkol; Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Brand, Harrison; Talkowski, Michael E.; MacArthur, Daniel G.; O’Donnell-Luria, Anne; Robson, Caroline D.; Hunter, David G.; Engle, Elizabeth C.
Genetics in Medicine; 20240101, Issue: Preprints
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[AR] England, Eleina M.
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