학술논문
'학술논문'
에서 검색결과 32건 | 목록
1~10
Academic Journal
Rigter, Pomme M.F.; de Konink, Charlotte; Dunn, Matthew J.; Proietti Onori, Martina; Humberson, Jennifer B.; Thomas, Matthew; Barnes, Caitlin; Prada, Carlos E.; Weaver, K. Nicole; Ryan, Thomas D.; Caluseriu, Oana; Conway, Jennifer; Calamaro, Emily; Fong, Chin-To; Wuyts, Wim; Meuwissen, Marije; Hordijk, Eva; Jonkers, Carsten N.; Anderson, Lucas; Yuseinova, Berfin; Polonia, Sarah; Beysen, Diane; Stark, Zornitza; Savva, Elena; Poulton, Cathryn; McKenzie, Fiona; Bhoj, Elizabeth; Bupp, Caleb P.; Bézieau, Stéphane; Mercier, Sandra; Blevins, Amy; Wentzensen, Ingrid M.; Xia, Fan; Rosenfeld, Jill A.; Hsieh, Tzung-Chien; Krawitz, Peter M.; Elbracht, Miriam; Veenma, Danielle C.M.; Schulman, Howard; Stratton, Margaret M.; Küry, Sébastien; van Woerden, Geeske M.
In The American Journal of Human Genetics 1 February 2024 111(2):364-382
Periodical
Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
European Journal of Human Genetics: EJHG; September 2023, Vol. 31 Issue: 9 p1023-1031, 9p
Academic Journal
Szot, Justin O.; Cuny, Hartmut; Martin, Ella M. M. A.; Sheng, Delicia Z.; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M.; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M.; Vincent-Delorme, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S.; Tan, Tiong Y.; Pitt, James; Wise, Cheryl A.; Wright, Helen; Andrews, Israel D.; Pruniski, Brianna; Grebe, Theresa A.; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J.; Hunter, Matthew F.; Heath, Oliver; Lakhani, Saquib A.; McDermott, John H.; Ascher, David B.; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L.
Academic Journal
Bhattacharjee, Rudrarup; Jolly, Lachlan A.; Corbett, Mark A.; Wee, Ing Chee; Rao, Sushma R.; Gardner, Alison E.; Ritchie, Tarin; van Hugte, Eline J. H.; Ciptasari, Ummi; Piltz, Sandra; Noll, Jacqueline E.; Nazri, Nazzmer; van Eyk, Clare L.; White, Melissa; Fornarino, Dani; Poulton, Cathryn; Baynam, Gareth; Collins-Praino, Lyndsey E.; Snel, Marten F.; Nadif Kasri, Nael; Hemsley, Kim M.; Thomas, Paul Q.; Kumar, Raman; Gecz, Jozef
Academic Journal
Poulton, Cathryn; Baynam, Gareth; Pugh, Kye; Mason, Michael; Kiraly‐Borri, Catherine; Gration, Dylan; Dreyer, Lauren; Viti, Leon; Agostino, Mark; Heng, Julian Ik‐Tsen
Academic Journal
Singh, Ram; Cohen, Ana S. A.; Poulton, Cathryn; Hjortshøj, Tina Duelund; Akahira-Azuma, Moe; Mendiratta, Geetu; Khan, Wahab A.; Azmanov, Dimitar N.; Woodward, Karen J.; Kirchhoff, Maria; Lisong Shi; Edelmann, Lisa; Baynam, Gareth; Scott, Stuart A.; Wang Jabs, Ethylin
Cold Spring Harbor Molecular Case Studies; Jun2021, Vol. 7 Issue 3, p1-15, 15p
Academic Journal
Byrne, Alicia B.; Arts, Peer; Ha, Thuong T.; Kassahn, Karin S.; Pais, Lynn S.; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S. B.; Feng, Jinghua; Wang, Paul; Lawrence, David M.; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T. Yee; Moore, Lynette; Liebelt, Jan E.; Schreiber, Andreas W.; King-Smith, Sarah L.; Hardy, Tristan S. E.; Jackson, Matilda R.; Barnett, Christopher P.; Scott, Hamish S.; Aguet, Francois; Arachchi, Harindra M.; Austin-Tse, Christina A.; Babb, Larry; Baxter, Samantha M.; Brand, Harrison; Chang, Jaime; Chao, Katherine R.; Collins, Ryan L.; Cummings, Beryl; Delano, Kayla; DiTroia, Stephanie P.; England, Eleina; Evangelista, Emily; Everett, Selin; Francioli, Laurent C.; Fu, Jack; Ganesh, Vijay S.; Garimella, Kiran, V; Gauthier, Laura D.; Goodrich, Julia K.; Gudmundsson, Sanna; Hall, Stacey J.; Huang, Yongqing; Jahl, Steve; Laricchia, Kristen M.; Larkin, Kathryn E.; Lek, Monkol; Lemire, Gabrielle; Lipson, Rachel B.; Lovgren, Alysia Kern; MacArthur, Daniel G.; Mangilog, Brian E.; Mano, Stacy; Marshall, Jamie L.; Mullen, Thomas E.; Nguyen, Kevin K.; O'Heir, Emily; O'Leary, Melanie C.; Osei-Owusu, Ikeoluwa A.; Chavez, Jorge Perez de Acha; Pierce-Hoffman, Emma; Rehm, Heidi L.; Serrano, Milan; Singer-Berk, Moriel; Snow, Hana; Solomonson, Matthew; Son, Rachel G.; Sveden, Abigail; Talkowski, Michael; Tiao, Grace; Udler, Miriam S.; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Watts, Nicholas A.; Weisburd, Ben; Williamson, Clara E.; Wilson, Michael W.; Witzgall, Lauren; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Zhang, Shifa; Abeysuriya, Disna; Ades, Lesley C.; Amor, David J.; Arbuckle, Susan; Bakshi, Madhura; Barnete, Christopher P.; Berry, Bligh; Boughtwood, Tiffany; Bournazos, Adam; Bray, Alessandra; Chan, Fiona; Chan, Yuen; Chung, Clara; Clark, Jonathan; Collett, Jackie; Colley, Alison; Collins, Felicity; Cooper, Sandra; Corbett, Mark A.; Dahlstrom, Jane E.; Dargaville, Peter; Davies, Janene; Davis, Tenielle; Dearman, Jarrad; Dissanayake, Jayanthi; Dobbins, Julia; Doyle, Helen; Dubowsky, Andrew; Edwards, Matt; Ewans, Lisa J.; Fadia, Mitali; Fennell, Andrew; Finlay, Ken; French, Andrew; Friend, Kathryn; Gardner, Alison E.; Gecz, Jozef; Graf, Nicole; Haan, Eric A.; Hollingsworth, Georgina; Horton, Ari E.; Howting, Denise; Hunter, Matthew F.; Jevon, Gareth; Kamien, Benjamin; Kennedy, Debra; Krivanek, Michael; Kroes, Thessa; Krzesinski, Emma, I; Kwan, Edward; Lau, Stephanie; LeBlanc, Shannon; Liebelt, Jan; Lindsey-Temple, Suzanna; Loo, Christine K. C.; Low, Julia; Mallawaarachchi, Amali; Matsika, Admire; Mattiske, Tessa; McGaughran, Julie; McGregor, Lesley; Mittal, Namita; Moghimi, Ali; Albayrak, Hatice Mutlu; Ng, Jessica; Nicholl, Jillian; Pachter, Nicholas; Papadimitriou, John; Parker, Renae; Parsons, Sarah; Patel, Chirag; Pawlowski, Rhonda; Perez-Jurado, Luis A.; Pinner, Jason R.; Politis, Katerina; Poulton, Cathryn; Power, Theresa; Quinn, Michael; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rorke, Steuart; Sachdev, Rani; Sallevelt, Suzanne; Sandaradura, Sarah A.; Shamassi, Maryam; Shamon, Roshan; Sherburn, Isabella; Slee, Ennie; Solinas, Annalisa; Sugo, Ella; Thompson, Elizabeth; Tripathy, Sagarika; Vasudevan, Anand; Vazquez, Melisa; Verma, Kunal; Viki, Mthulisi; Wallis, Mathew; Webber, Dani L.; Weber, Martin; Whale, Karen; Wilson, Meredith; Worgan, Lisa; Yu, Sui; Brd Inst Ctr Mendelian Genomics; Genomic Autopsy Study Res Network
Academic Journal
Lassmann, Timo; Francis, Richard W.; Weeks, Alexia; Tang, Dave; Jamieson, Sarra E.; Broley, Stephanie; Dawkins, Hugh J. S.; Dreyer, Lauren; Goldblatt, Jack; Groza, Tudor; Kamien, Benjamin; Kiraly-Borri, Cathy; McKenzie, Fiona; Murphy, Lesley; Pachter, Nicholas; Pathak, Gargi; Poulton, Cathryn; Samanek, Amanda; Skoss, Rachel; Slee, Jennie
NPJ Genomic Medicine; 12/10/2020, Vol. 5 Issue 1, p1-11, 11p
Academic Journal
Johannesen, Katrine M.; Mitter, Diana; Janowski, Robert; Roth, Christian; Toulouse, Joseph; Poulat, Anne-Lise; Ville, Dorothee M.; Chatron, Nicolas; Brilstra, Eva; Geleijns, Karin; Born, Alfred Peter; McLean, Scott; Nugent, Kimberly; Baynam, Gareth; Poulton, Cathryn; Dreyer, Lauren; Gration, Dylan; Schulz, Solveig; Dieckmann, Andrea; Helbig, Katherine L.; Merkenschlager, Andreas; Jamra, Rami; Finck, Anja; Gardella, Elena; Hjalgrim, Helle; Mirzaa, Ghayda; Brancati, Francesco; Bierhals, Tatjana; Denecke, Jonas; Hempel, Maja; Lemke, Johannes R.; Rubboli, Guido; Muschke, Petra; Guerrini, Renzo; Vetro, Annalisa; Niessing, Dierk; Lesca, Gaetan; Møller, Rikke S.
Neurology: Genetics. Dec 01, 2019 5(6)
Academic Journal
Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, Maria Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin S.; Cherick, Florian; Foroutan, Aidin; Friez, Michael J.; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A.; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J.; Maitz, Silvia; Milani, Donatella; Morgan, Angela T.; Oegema, Renske; Ostergaard, Elsebet; Pallares, Nathalie R.; Piccione, Maria; Plomp, Astrid S.; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W. E.; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella M.; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J.; Vergano, Samantha A.; Vos, Niels; Walden, Kellie K.; Azmanov, Dimitar; Balci, Tugce B.; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A.; Mannens, Marcel M. A. M.; Roscioli, Tony; Siu, Victoria; Amor, David J.; Baynam, Gareth; Bend, Eric G.; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M.; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A.; Fleming, Mark D.; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin D.; McNeill, Alisdair; Menke, Leonie A.; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A.; Stevenson, Roger E.; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L.; Sadikovic, Bekim
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[AR] Poulton, Cathryn
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