학술논문
'학술논문'
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1~10
Academic Journal
Accogli, Andrea; Lin, Sheng-Jia; Severino, Mariasavina; Kim, Sung-Hoon; Huang, Kevin; Rocca, Clarissa; Landsverk, Megan; Zaki, Maha S.; Al-Maawali, Almundher; Srinivasan, Varunvenkat M.; Al-Thihli, Khalid; Schaefer, G. Bradly; Davis, Monica; Tonduti, Davide; Doneda, Chiara; Marten, Lara M.; Mühlhausen, Chris; Gomez, Maria; Lamantea, Eleonora; Mena, Rafael; Nizon, Mathilde; Procaccio, Vincent; Begtrup, Amber; Telegrafi, Aida; Cui, Hong; Schulz, Heidi L.; Mohr, Julia; Biskup, Saskia; Loos, Mariana Amina; Aráoz, Hilda Verónica; Salpietro, Vincenzo; Keppen, Laura Davis; Chitre, Manali; Petree, Cassidy; Raymond, Lucy; Vogt, Julie; Sawyer, Lindsey B.; Basinger, Alice A.; Pedersen, Signe Vandal; Pearson, Toni S.; Grange, Dorothy K.; Lingappa, Lokesh; McDunnah, Paige; Horvath, Rita; Cognè, Benjamin; Isidor, Bertrand; Hahn, Andreas; Gripp, Karen W.; Jafarnejad, Seyed Mehdi; Østergaard, Elsebet; Prada, Carlos E.; Ghezzi, Daniele; Gowda, Vykuntaraju K.; Taylor, Robert W.; Sonenberg, Nahum; Houlden, Henry; Sissler, Marie; Varshney, Gaurav K.; Maroofian, Reza
In Genetics in Medicine November 2023 25(11)
Academic Journal
Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A.; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C. Geoffrey; Raymond, F. Lucy; Carss, Keren J.
In The American Journal of Human Genetics 3 August 2023 110(8):1343-1355
Academic Journal
Abdel-mannan, Omar; Champsas, Dimitrios; Tur, Carmen; Lee, Vanessa; Manivannan, Sharmila; Usman, Haroon; Skippen, Alison; Desai, Ishita; Chitre, Manali; Forsyth, Rob; Kneen, Rachel; Ram, Dipak; Ramdas, Sithara; Rossor, Thomas; West, Siobhan; Wright, Sukhvir; Palace, Jacqueline; Wassmer, Evangeline; Hemingway, Cheryl; Lim, Ming J.; Mankad, Kshitij; Ciccarelli, Olga; Hacohen, Yael; UK Childhood Neuroinflammatory Dis
Academic Journal
In Paediatrics and Child Health May 2015 25(5):245-248
Academic Journal
Arno, Gavin; Carss, Keren J; Hull, Sarah; Zihni, Ceniz; Robson, Anthony G; Fiorentino, Alessia; Hardcastle, Alison J; Holder, Graham E; Cheetham, Michael E; Plagnol, Vincent; Moore, Anthony; Raymond, F Lucy; Matter, Karl; Balda, Maria S; Webster, Andrew R; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Manson, Forbes; Sergouniotis, Panagiotis; Inglehearn, Chris; Toomes, Carmel; Ali, Manir; McKibbin, Martin; Poulter, James; Khan, Kamron; Lord, Emma; Nemeth, Andrea; Downes, Susan; Halford, Stephanie; Yu, Jing; Lise, Stefano; Ponitkos, Nikos; Michaelides, Michel; Webster, Andrew; van Heyningen, Veronica; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allen, Louise; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Armstrong, Ruth; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bitner-Glindzicz, Maria; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carmichael, Jenny; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Chitre, Manali; Church, Colin; Clement, Emma; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri VV; Deshpande, Charu
American Journal of Human Genetics. 100(2)
Academic Journal
Carss, Keren J; Arno, Gavin; Erwood, Marie; Stephens, Jonathan; Sanchis-Juan, Alba; Hull, Sarah; Megy, Karyn; Grozeva, Detelina; Dewhurst, Eleanor; Malka, Samantha; Plagnol, Vincent; Penkett, Christopher; Stirrups, Kathleen; Rizzo, Roberta; Wright, Genevieve; Josifova, Dragana; Bitner-Glindzicz, Maria; Scott, Richard H; Clement, Emma; Allen, Louise; Armstrong, Ruth; Brady, Angela F; Carmichael, Jenny; Chitre, Manali; Henderson, Robert HH; Hurst, Jane; MacLaren, Robert E; Murphy, Elaine; Paterson, Joan; Rosser, Elisabeth; Thompson, Dorothy A; Wakeling, Emma; Ouwehand, Willem H; Michaelides, Michel; Moore, Anthony T; Consortium, NIHR-BioResource Rare Diseases; Aitman, Timothy; Alachkar, Hana; Ali, Sonia; Allsup, David; Ambegaonkar, Gautum; Anderson, Julie; Antrobus, Richard; Arumugakani, Gururaj; Ashford, Sofie; Astle, William; Attwood, Antony; Austin, Steve; Bacchelli, Chiara; Bakchoul, Tamam; Bariana, Tadbir K; Baxendale, Helen; Bennett, David; Bethune, Claire; Bibi, Shahnaz; Bleda, Marta; Boggard, Harm; Bolton-Maggs, Paula; Booth, Claire; Bradley, John R; Brady, Angie; Brown, Matthew; Browning, Michael; Bryson, Christine; Burns, Siobhan; Calleja, Paul; Canham, Natalie; Carss, Keren; Caulfield, Mark; Chalmers, Elizabeth; Chandra, Anita; Chinnery, Patrick; Church, Colin; Clements-Brod, Naomi; Clowes, Virginia; Coghlan, Gerry; Collins, Peter; Cooper, Nichola; Creaser-Myers, Amanda; DaCosta, Rosa; Daugherty, Louise; Davies, Sophie; Davis, John; De Vries, Minka; Deegan, Patrick; Deevi, Sri VV; Deshpande, Charu; Devlin, Lisa; Doffinger, Rainer; Dormand, Natalie; Drewe, Elizabeth; Edgar, David
American Journal of Human Genetics. 100(1)
Academic Journal
Latour, Brooke L.; Van De Weghe, Julie C.; Rusterholz, Tamara D.S.; Letteboer, Stef J.F.; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E.; van Reeuwijk, Jeroen; van Beersum, Sylvia E.C.; Miller, Caitlin V.; Dempsey, Jennifer C.; Morsy, Heba; Bamshad, Michael J.; Nickerson, Deborah A.; Neuhauss, Stephan C.F.; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A.; Alkuraya, Fowzan S.; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan
Journal of Clinical Investigation. August 2020, Vol. 130 Issue 8, p4423, 17 p.
Academic Journal
Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Long; Taylor, Robert W; Ostergaard, Elsebet
Human Molecular Genetics; 2/15/2022, Vol. 31 Issue 4, p523-534, 12p
Academic Journal
McTaggart, James S.; Lalou, Afroditi-Despina; Higgins, Nicholas J.; Chitre, Manali; Parker, Alasdair P. J.; Muthusamy, Brinda; Czosnyka, Zofia H.; Krishnakumar, Deepa
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