학술논문
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'학술논문'
에서 검색결과 184건 | 목록
1~20
Academic Journal
Ambrose, J.C. ; Arumugam, P. ; Bevers, R. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Brown, M.A.; Caulfield, M.J. ; Chan, G.C. ; Giess, A. ; Griffin, J.N.; Hamblin, A. ; Henderson, S. ; Hubbard, T.J.P. ; Jackson, R. ; Jones, L.J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lakey, A.; Leigh, S.E.A. ; Leong, I.U.S. ; Lopez, F.J. ; Maleady-Crowe, F. ; McEntagart, M. ; Minneci, F. ; Mitchell, J. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; 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. ; Zarowiecki, M. ; Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo ; Thomas, N. Simon ; Ashton, James J. ; Stafford, Imogen ; Baralle, Diana ; Rehm, Heidi L. ; O’Donnell-Luria, Anne ; Ennis, Sarah
In Genetics in Medicine April 2024 26(4)
Academic Journal
Ambrose, J. C. ; Arumugam, P. ; Bevers, R. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C. R. ; Brittain, H. ; Brown, M. A.; Caulfield, M. J. ; Chan, G. C. ; Giess, A. ; Griffin, J. N.; Hamblin, A. ; Henderson, S. ; Hubbard, T. J. P. ; Jackson, R. ; Jones, L. J. ; Kasperaviciute, D. ; Kayikci, M. ; Kousathanas, A. ; Lahnstein, L. ; Lakey, A.; Leigh, S. E. A. ; Leong, I. U. S. ; Lopez, F. J. ; Maleady-Crowe, F. ; McEntagart, M. ; Minneci, F. ; Mitchell, J. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A. C. ; O‘Donovan, P. ; Odhams, C. A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M. B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; 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. ; Zarowiecki, M. ; Cheloor Kovilakam, Sruthi ; Gu, Muxin ; Dunn, William G. ; Marando, Ludovica ; Barcena, Clea ; Nik-Zainal, Serena ; Mohorianu, Irina ; Kar, Siddhartha P. ; Fabre, Margarete A. ; Quiros, Pedro M. ; Vassiliou, George S.
In Blood 5 October 2023 142(14):1185-1192
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; 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.; Zarowiecki, M.; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Grajewski, Alana; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Niggl, Eva ; Bouman, Arjan ; Hoogenboezem, Remco M. ; Wallaard, Ilse ; Park, Joohyun ; Admard, Jakob ; Wilke, Martina ; Harris-Mostert, Emilio D.R.O. ; Elgersma, Minetta ; Bain, Jennifer ; Balasubramanian, Meena ; Banka, Siddharth ; Benke, Paul J. ; Bertrand, Miriam ; Blesson, Alyssa E. ; Clayton-Smith, Jill ; Ellingford, Jamie M. ; Gillentine, Madelyn A. ; Goodloe, Dana H. ; Haack, Tobias B. ; Jain, Mahim ; Krantz, Ian ; Luu, Sharon M. ; McPheron, Molly ; Muss, Candace L. ; Raible, Sarah E. ; Robin, Nathaniel H. ; Spiller, Michael ; Starling, Susan ; Thiffault, Isabelle ; Vetrini, Francesco ; Witt, Dennis ; Woods, Emily ; Zhou, Dihong ; Elgersma, Ype ; van Esbroeck, Annelot C.M.
In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; 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.; Zarowiecki, M.; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; ’t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldiz, Burcu; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Specht, Sabine; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Tisserant, Emilie; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Garcia, Carles; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan, Jr.; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; Van de Vondel, Liedewei; Beijer, Danique; de Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurelien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. Javier; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Marcé-Grau, Anna; Osorio, Andres Nascimiento; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; Rodriguez Cruz, Pedro M.; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; Lin, Sheng-Jia ; Jones, Elizabeth A. ; Chandler, Kate E. ; Orr, David ; Moss, Celia ; Haider, Zahra ; Ryan, Gavin ; Holden, Simon ; Harrison, Mike ; Burrows, Nigel ; Jones, Wendy D. ; Loveless, Mary ; Petree, Cassidy ; Stewart, Helen ; Low, Karen ; Donnelly, Deirdre ; Lovell, Simon ; Drosou, Konstantina ; Varshney, Gaurav K.
In Human Genetics and Genomics Advances 13 April 2023 4(2)
Academic Journal
Ambrose, J.C.; Arumugam, P.; Baple, E.L.; Bleda, M.; Boardman-Pretty, F.; Boissiere, J.M.; Boustred, C.R.; Brittain, H.; Caulfield, M.J.; Chan, G.C.; Craig, C.E.H.; Daugherty, L.C.; de Burca, A.; Devereau, A.; Elgar, G.; Foulger, R.E.; Fowler, T.; Furió-Tarí, P.; Hackett, J.M.; Halai, D.; Hamblin, A.; Henderson, S.; Holman, J.E.; Hubbard, T.J.P.; Ibáñez, K.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Lahnstein, L.; Lawson, K.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; Mason, J.; McDonagh, E.M.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Polychronopoulos, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Riesgo-Ferreiro, P.; Rogers, T.; Ryten, M.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smedley, D.; Smith, K.R.; Sosinsky, A.; Spooner, W.; Stevens, H.E.; Stuckey, A.; Sultana, R.; Thomas, E.R.A.; Thompson, S.R.; Tregidgo, C.; Tucci, A.; Walsh, E.; Watters, S.A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Morsy, Heba ; Benkirane, Mehdi ; Cali, Elisa ; Rocca, Clarissa ; Zhelcheska, Kristina ; Cipriani, Valentina ; Galanaki, Evangelia ; Maroofian, Reza ; Efthymiou, Stephanie ; Murphy, David ; O’Driscoll, Mary ; Suri, Mohnish ; Banka, Siddharth ; Clayton-Smith, Jill ; Wright, Thomas ; Redman, Melody ; Bassetti, Jennifer A. ; Nizon, Mathilde ; Cogne, Benjamin ; Jamra, Rami Abu ; Bartolomaeus, Tobias ; Heruth, Marion ; Krey, Ilona ; Gburek-Augustat, Janina ; Wieczorek, Dagmar ; Gattermann, Felix ; Mcentagart, Meriel ; Goldenberg, Alice ; Guyant-Marechal, Lucie ; Garcia-Moreno, Hector ; Giunti, Paola ; Chabrol, Brigitte ; Bacrot, Severine ; Buissonnière, Roger ; Magry, Virginie ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Melegh, Béla ; Szabó, András ; Sümegi, Katalin ; Cossée, Mireille ; Ziff, Monica ; Butterfield, Russell ; Hunt, David ; Bird-Lieberman, Georgina ; Hanna, Michael ; Koenig, Michel ; Stankewich, Michael ; Vandrovcova, Jana ; Houlden, Henry
In Genetics in Medicine January 2023 25(1):76-89
Academic Journal
Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur ; Riccardi, Florence ; Field, Michael ; Banka, Siddharth ; Bubshait, Dalal K. ; Li, Yun ; Hertecant, Jozef ; Baig, Shahid Mahmood ; Dyment, David ; Efthymiou, Stephanie ; Abdullah, Uzma ; Makhdoom, Ehtisham Ul Haq ; Ali, Zafar ; Scherf de Almeida, Tobias ; Molinari, Florence ; Mignon-Ravix, Cécile ; Chabrol, Brigitte ; Antony, Jayne ; Ades, Lesley ; Pagnamenta, Alistair T. ; Jackson, Adam ; Douzgou, Sofia ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; 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. ; Lopez, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O’Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Beetz, Christian ; Karageorgou, Vasiliki ; Vona, Barbara ; Rad, Aboulfazl ; Baig, Jamshaid Mahmood ; Sultan, Tipu ; Alvi, Javeria Raza ; Maqbool, Shazia ; Rahman, Fatima ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Sarwar, Yasra ; Khan, Sheraz ; Jameel, Muhammad ; Noegel, Angelika A. ; Budde, Birgit ; Altmüller, Janine ; Motameny, Susanne ; Höhne, Wolfgang ; Houlden, Henry ; Nürnberg, Peter ; Wollnik, Bernd ; Villard, Laurent ; Alkuraya, Fowzan Sami ; Osmond, Matthew ; Hussain, Muhammad Sajid ; Yigit, Gökhan
In Genetics in Medicine November 2021 23(11):2138-2149
Academic Journal
Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G. ; Kaiyrzhanov, Rauan ; Maroofian, Reza ; Petree, Cassidy ; Severino, Mariasavina ; Stanley, Valentina ; Varshney, Pratishtha ; Bahena, Paulina ; Alzahrani, Fatema ; Alhashem, Amal ; Pagnamenta, Alistair T. ; Aubertin, Gudrun ; Estrada-Veras, Juvianee I. ; Hernández, Héctor Adrián Díaz ; Mazaheri, Neda ; Oza, Andrea ; Thies, Jenny ; Renaud, Deborah L. ; Dugad, Sanmati ; McEvoy, Jennifer ; Sultan, Tipu ; Pais, Lynn S. ; Tabarki, Brahim ; Villalobos-Ramirez, Daniel ; Rad, Aboulfazl ; Ambrose, J.C. ; Arumugam, P. ; Bleda, M. ; Boardman-Pretty, F. ; Boustred, C.R. ; Brittain, H. ; Caulfield, M.J. ; Chan, G.C. ; 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, F.J. ; Maleady-Crowe, F. ; Moutsianas, L. ; Mueller, M. ; Murugaesu, N. ; Need, A.C. ; O‘Donovan, P. ; Odhams, C.A. ; Patch, C. ; Perez-Gil, D. ; Pereira, M.B. ; Pullinger, J. ; Rahim, T. ; Rendon, A. ; Rogers, T. ; Savage, K. ; Sawant, K. ; Scott, R.H. ; Siddiq, A. ; Sieghart, A. ; Smith, S.C. ; Sosinsky, A. ; Stuckey, A. ; Tanguy, M. ; Thomas, E.R.A. ; Thompson, S.R. ; Tucci, A. ; Walsh, E. ; Welland, M.J. ; Williams, E. ; Witkowska, K. ; Wood, S.M. ; Galehdari, Hamid ; Ashrafzadeh, Farah ; Sahebzamani, Afsaneh ; Saeidi, Kolsoum ; Torti, Erin ; Elloumi, Houda Z. ; Mora, Sara ; Palculict, Timothy B. ; Yang, Hui ; Wren, Jonathan D. ; Ben Fowler ; Joshi, Manali ; Behra, Martine ; Burgess, Shawn M. ; Nath, Swapan K. ; Hanna, Michael G. ; Kenna, Margaret ; Merritt, J. Lawrence, II ; Houlden, Henry ; Karimiani, Ehsan Ghayoor ; Zaki, Maha S. ; Haaf, Thomas ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Varshney, Gaurav K.
In Genetics in Medicine October 2021 23(10):1933-1943
Academic Journal
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In Neuron 3 February 2021 109(3):448-460
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In Genetics in Medicine February 2021 23(2):408-414
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In Genetics in Medicine December 2020 22(12):2041-2051
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In: Health Expectations . (Health Expectations, August 2025, 28(4))
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Vaillancourt, T.; Krygsman, A.; Brittain, H.; van Noordt, S.; Davis, A.C.; Palamarchuk, I.S.; Arnocky, S.; Segalowitz, S.J.; Crowley, M.J.; Schmidt, L.A.
In: Scientific Reports . (Scientific Reports, December 2024, 14(1))
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Sanjaya, Prima; Maljanen, Katri; Katainen, Riku; Waszak, Sebastian M.; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.; Jackson, R.
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Leggatt, Gary; Cheng, Guo; Narain, Sumit; Briseño-Roa, Luis; Annereau, Jean-Philippe; Ambrose, J. C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C. R.; Brittain, H.; Brown, M. A.; Caulfield, M. J.; Chan, G. C.; Giess, A.; Griffin, J. N.; Hamblin, A.; Henderson, S.; Hubbard, T. J. P.
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