학술논문
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'학술논문'
에서 검색결과 143건 | 목록
1~20
Academic Journal
Adang, Laura Ann ; Groeschel, Samuel ; Grzyb, Chloe ; D'Aiello, Russell ; Gavazzi, Francesco ; Sherbini, Omar ; Bronner, Nowa ; Patel, Akshilkumar ; Vincent, Ariel ; Sevagamoorthy, Anjana ; Mutua, Sylvia ; Muirhead, Kayla ; Schmidt, Johanna ; Pizzino, Amy ; Yu, Emily ; Jin, Danielle ; Eichler, Florian ; Fraser, Jamie L. ; Emrick, Lisa ; Van Haren, Keith ; Boulanger, Jean-Martin ; Ruzhnikov, Maura ; Sylvain, Michel ; Nguyen, Cam-Tu Émilie ; Potic, Ana ; Keller, Stephanie ; Fatemi, Ali ; Uebergang, Eloise ; Poe, Michele ; Yazdani, Pouneh Amir ; Bernat, John ; Lindstrom, Kristen ; Bonkowsky, Joshua L. ; Bernard, Genevieve ; Stutterd, Chloe A. ; Orchard, Paul ; Gupta, Ashish O. ; Ljungberg, Merete ; Groenborg, Sabine ; Zambon, Alberto ; Locatelli, Sara ; Fumagalli, Francesca ; Elguen, Saskia ; Kehrer, Christiane ; Krägeloh-Mann, Ingeborg ; Shults, Justine ; Vanderver, Adeline ; Escolar, Maria L.
In Molecular Genetics and Metabolism August 2024 142(4)
Academic Journal
Wallis, Mathew; Bodek, Simon D.; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F.; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y.; John, Tom; Mullen, Saul; White, Susan M.; Brown, Natasha J.; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S.; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F.
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies ; Leblanc, Pontus ; Bogaert, Elke ; Dheedene, Annelies ; De Cock, Laurenz ; Haghshenas, Sadegheh ; Foroutan, Aidin ; Levy, Michael A. ; Kerkhof, Jennifer ; McConkey, Haley ; Chen, Chun-An ; Batzir, Nurit Assia ; Wang, Xia ; Palomares, María ; Carels, Marieke ; Dermaut, Bart ; Sadikovic, Bekim ; Menten, Björn ; Yuan, Bo ; Vergult, Sarah ; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd , C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R,Stutterd , C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R,Stutterd , C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R,Stutterd , C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R,
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R,
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R,
Academic Journal
Francis, David I.; Stark, Zornitza; Scheffer, Ingrid E.; Tan, Tiong Yang; Murali, Krithika; Gallacher, Lyndon; Amor, David J.; Goel, Himanshu; Downie, Lilian; Stutterd, Chloe A.; Krzesinski, Emma I.; Vasudevan, Anand; Oertel, Ralph; Petrovic, Vida; Boys, Amber; Wei, Vivian; Burgess, Trent; Dun, Karen; Oliver, Karen L.; Baxter, Anne; Hackett, Anna; Ayres, Samantha; Lunke, Sebastian; Kalitsis, Paul; Wall, Meaghan
European Journal of Human Genetics. 31(5):521-525
Academic Journal
Herkert, Johanna C. ; Verhagen, Judith M.A. ; Yotti, Raquel ; Haghighi, Alireza ; Phelan, Dean G. ; James, Paul A. ; Brown, Natasha J. ; Stutterd, Chloe ; Macciocca, Ivan ; Leong, Kai'En ; Bulthuis, Marian L.C. ; van Bever, Yolande ; van Slegtenhorst, Marjon A. ; Boven, Ludolf G. ; Roberts, Amy E. ; Agarwal, Radhika ; Seidman, Jonathan ; Lakdawala, Neal K. ; Fernández-Avilés, Francisco ; Burke, Michael A. ; Pierpont, Mary Ella. ; Braunlin, Elizabeth ; Ḉağlayan, Ahmet Okay ; Barge-Schaapveld, Daniela Q.C.M. ; Birnie, Erwin ; van Osch-Gevers, Lennie ; van Langen, Irene M. ; Jongbloed, Jan D.H. ; Lockhart, Paul J. ; Amor, David J. ; Seidman, Christine E. ; van de Laar, Ingrid M.B.H.
In American Heart Journal July 2020 225:108-119
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Joanne Luke; Philippa Dalach; Lindsay Tuer; Ravi Savarirayan; Angeline Ferdinand; Julie McGaughran; Emma Kowal; Libby Massey; Gail Garvey; Hugh Dawkins; Misty Jenkins; Yin Paradies; Glenn Pearson; Chloe A. Stutterd; Gareth Baynam; Margaret Kelaher
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Academic Journal
Helman, Guy ; Zerem, Ayelet ; Almad, Akshata ; Hacker, Julia L. ; Woidill, Sarah ; Sase, Sunetra ; LeFevre, Alexandra N. ; Ekstein, Josef ; Johansson, Martin M. ; Stutterd, Chloe A. ; Taft, Ryan J. ; Simons, Cas ; Grinspan, Judith B. ; Pizzino, Amy ; Schmidt, Johanna L. ; Harding, Brian ; Hirsch, Yoel ; Viaene, Angela N. ; Fattal-Valevski, Aviva ; Vanderver, Adeline
In Pediatric Neurology August 2021 121:11-19
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Gökhan Yigit; Ken Saida; Danielle DeMarzo; Noriko Miyake; Atsushi Fujita; Tiong Yang Tan; Susan M. White; Alexandrea Wadley; Mohammad R. Toliat; Susanne Motameny; Marek Franitza; Chloe A. Stutterd; Pin F. Chong; Ryutaro Kira; Toru Sengoku; Kazuhiro Ogata; Maria J. Guillen Sacoto; Christine Fresen; Bodo B. Beck; Peter Nürnberg; Christoph Dieterich; Bernd Wollnik; Naomichi Matsumoto; Janine Altmüller
Human Mutation. 41:591-599
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Rafehi, Haloom; Fearnley, Liam G.; Read, Justin; Snell, Penny; Davies, Kayli C.; Scott, Liam; Gillies, Greta; Thompson, Genevieve C.; Field, Tess A.; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G. Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R.; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H. C.; Szmulewicz, David J.; Delatycki, Martin B.; Bahlo, Melanie; Lockhart, Paul J.
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Eratne, Dhamidhu ; Schneider, Amy ; Lynch, Ella ; Martyn, Melissa ; Velakoulis, Dennis ; Fahey, Michael ; Kwan, Patrick ; Leventer, Richard ; Rafehi, Haloom ; Chong, Belinda ; Stark, Zornitza ; Lunke, Sebastian ; Phelan, Dean G. ; O'Keefe, Melanie ; Siemering, Kirby ; West, Kirsty ; Sexton, Adrienne ; Jarmolowicz, Anna ; Taylor, Jessica A. ; Schultz, Joshua ; Purvis, Rebecca ; Uebergang, Eloise ; Chalinor, Heather ; Creighton, Belinda ; Gelfand, Nikki ; Saks, Tamar ; Prawer, Yael ; Smagarinsky, Yana ; Pan, Tianxin ; Goranitis, Ilias ; Ademi, Zanfina ; Gaff, Clara ; Huq, Aamira ; Walsh, Maie ; James, Paul A. ; Krzesinski, Emma I. ; Wallis, Mathew ; Stutterd, Chloe A. ; Bahlo, Melanie ; Delatycki, Martin B. ; Berkovic, Samuel F.
In Journal of the Neurological Sciences 15 January 2021 420
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Yeung, Alison ; Tan, Natalie B. ; Tan, Tiong Y. ; Stark, Zornitza ; Brown, Natasha ; Hunter, Matthew F. ; Delatycki, Martin ; Stutterd, Chloe ; Savarirayan, Ravi ; Mcgillivray, George ; Stapleton, Rachel ; Kumble, Smitha ; Downie, Lilian ; Regan, Matthew ; Lunke, Sebastian ; Chong, Belinda ; Phelan, Dean ; Brett, Gemma R. ; Jarmolowicz, Anna ; Prawer, Yael ; Valente, Giulia ; Smagarinsky, Yana ; Martyn, Melissa ; McEwan, Callum ; Goranitis, Ilias ; Gaff, Clara ; White, Susan M.
In Genetics in Medicine December 2020 22(12):1986-1993
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Ma, Alan ; Yousoof, Saira ; Grigg, John R. ; Flaherty, Maree ; Minoche, Andre E. ; Cowley, Mark J. ; Nash, Benjamin M. ; Ho, Gladys ; Gayagay, Thet ; Lai, Tiffany ; Farnsworth, Elizabeth ; Hackett, Emma L. ; Fisk, Katrina ; Wong, Karen ; Holman, Katherine J. ; Jenkins, Gemma ; Cheng, Anson ; Martin, Frank ; Karaconji, Tanya ; Elder, James E. ; Enriquez, Annabelle ; Wilson, Meredith ; Amor, David J. ; Stutterd, Chloe A. ; Kamien, Benjamin ; Nelson, John ; Dinger, Marcel E. ; Bennetts, Bruce ; Jamieson, Robyn V.
In Genetics in Medicine October 2020 22(10):1623-1632
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Stutterd, Chloe A. ; Francis, David ; McGillivray, George ; Lockhart, Paul J. ; Leventer, Richard J.
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Menno D. Stellingwerff; Sonia Figuccia; Emanuele Bellacchio; Karin Alvarez; Claudia Castiglioni; Pinar Topaloglu; Chloe A. Stutterd; Corrie E. Erasmus; Amarilis Sanchez‐Valle; Sebastien Lebon; Sarah Hughes; Thomas Schmitt-Mechelke; Gessica Vasco; Gabriel Chow; Elisa Rahikkala; Cristina Dallabona; Cecilia Okuma; Chiara Aiello; Paola Goffrini; Truus E.M. Abbink; Enrico S. Bertini; Marjo S. Van der Knaap
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Ghosh, Shereen G.; Scala, Marcello; Beetz, Christian; Helman, Guy; Stanley, Valentina; Yang, Xiaoxu; Breuss, Martin W.; Mazaheri, Neda; Selim, Laila; Hadipour, Fatemeh; Pais, Lynn; Stutterd, Chloe A.; Karageorgou, Vasiliki; Begtrup, Amber; Crunk, Amy; Juusola, Jane; Willaert, Rebecca; Flore, Leigh A.; Kennelly, Kelly; Spencer, Christopher; Brown, Martha; Trapane, Pamela; Hurst, Anna C. E.; Lane Rutledge, S.; Goodloe, Dana H.; McDonald, Marie T.; Shashi, Vandana; Schoch, Kelly; Tomoum, Hoda; Zaitoun, Raghda; Hadipour, Zahra; Galehdari, Hamid; Pagnamenta, Alistair T.; Mojarrad, Majid; Sedaghat, Alireza; Dias, Patrícia; Quintas, Sofia; Eslahi, Atiyeh; Shariati, Gholamreza; Bauer, Peter; Simons, Cas; Houlden, Henry; Issa, Mahmoud Y.; Zaki, Maha S.; Maroofian, Reza; Gleeson, Joseph G.
European Journal of Human Genetics. 29(2):271-279
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Stutterd, Chloe ; McGillivray, George ; Stark, Zornitza ; Messazos, Betty ; Cameron, Fergus ; White, Sue ; Mirzaa, Ghayda ; Leventer, Richard
In European Journal of Medical Genetics December 2018 61(12):738-740
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Carolyn Bursle; Eppie M. Yiu; Alison Yeung; Jeremy L. Freeman; Chloe Stutterd; Richard J. Leventer; Adeline Vanderver; Joy Yaplito‐Lee
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
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Armangue, Thais ; Orsini, Joseph J. ; Takanohashi, Asako ; Gavazzi, Francesco ; Conant, Alex ; Ulrick, Nicole ; Morrissey, Mark A. ; Nahhas, Norah ; Helman, Guy ; Gordish-Dressman, Heather ; Orcesi, Simona ; Tonduti, Davide ; Stutterd, Chloe ; van Haren, Keith ; Toro, Camilo ; Iglesias, Alejandro D. ; van der Knaap, Marjo S. ; Goldbach Mansky, Raphaela ; Moser, Anne B. ; Jones, Richard O. ; Vanderver, Adeline
In Molecular Genetics and Metabolism November 2017 122(3):134-139
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Fertility & Reproduction, Vol 04, Iss 03n04, Pp 161-161 (2022)
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