학술논문
'학술논문'
에서 검색결과 43건 | 목록
1~10
Academic Journal
Sabanathan, Saraswathy; Gulhane, Deepti; Mankad, Kshitij; Davison, James; Ong, Min Tsui; Phadke, Rahul; Robinson, Robert; Spiller, Michael; Wakeling, Emma; Ramdas, Sithara; Brady, Angela F; Balasubramanian, Meena; Munot, Pinki
In Neuromuscular Disorders January 2023 33(1):50-57
Academic Journal
Adams, Lisa; Adlard, Julian; Alfonso, Rosa; Ali, Saira; Andrew, Angela; Araújo, Luís; Azam, Nazya; Ball, Darran; Barker, Queenstone; Basevitch, Alon; Benton, Barbara; Berlin, Cheryl; Bermingham, Nicola; Biller, Leah; Bloss, Angela; Bradford, Matilda; Bradshaw, Nicola; Branson, Amy; Brendler, Charles; Brennan, Maria; Bulman, Barbara; Burgess, Lucy; Cahill, Declan; Callard, Alice; Calvo Verges, Nuria; Cardoso, Marta; Carter, Vanda; Catanzaro, Mario; Chamberlain, Anthony; Chapman, Cyril; Chong, Michael; Clark, Caroline; Clowes, Virginia; Cogley, Lyn; Cole, Trevor; Compton, Cecilia; Conner, Tom; Cookson, Sandra; Cornford, Philip; Costello, Philandra; Coulier, Laura; Davies, Michaela; Dechet, Christopher; DeSouza, Bianca; Devlin, Gemma; Douglas, Fiona; Douglas, Emma; Dudakia, Darshna; Duncan, Alexis; Ellery, Natalie; Everest, Sarah; Freemantle, Sue; Frydenberg, Mark; Fuller, Debbie; Gabriel, Camila; Gale, Madeline; Garcia, Lynda; Gay, Simona; Genova, Elena; George, Angela; Georgiou, Demetra; Gisbert, Alexandra; Gleeson, Margaret; Glover, Wayne; Gnanapragasam, Vincent; Goff, Sally; Goldgar, David; Gonçalves, Nuno; Goodman, Selina; Gorrie, Jennifer; Gott, Hannah; Grant, Anna; Gray, Catherine; Griffiths, Julie; Gupwell, Karin; Gurasashvili, Jana; Hanslien, Eldbjørg; Haraldsdottir, Sigurdis; Hart, Rachel; Hartigan, Catherine; Hawkes, Lara; Heaton, Tricia; Henderson, Alex; Henrique, Rui; Hilario, Kathrine; Hill, Kathryn; Hulick, Peter; Hunt, Clare; Hutchings, Melanie; Ibitoye, Rita; Inglehearn, Thomas; Ireland, Joanna; Islam, Farah; Ismail, Siti; Jacobs, Chris; James, Denzil; Jenkins, Sharon; Jobson, Irene; Johnstone, Anne; Jones, Oliver; Josefsberg Ben-Yehoshua, Sagi; Kaemba, Beckie; Kaul, Karen; Kemp, Zoe; Kinsella, Netty; Klehm, Margaret; Kockelbergh, Roger; Kohut, Kelly; Kosicka-Slawinska, Monika; Kulkarni, Anjana; Kumar, Pardeep; Lam, Jimmy; LeButt, Mandy; Leibovici, Dan; Lim, Ramona; Limb, Lauren; Lomas, Claire; Longmuir, Mark; López, Consol; Magnani, Tiziana; Maia, Sofia; Maiden, Jessica; Male, Alison; Manalo, Merrie; Martin, Phoebe; McBride, Donna; McGuire, Michael; McMahon, Romayne; McNally, Claire; McVeigh, Terri; Melzer, Ehud; Mencias, Mark; Mercer, Catherine; Mitchell, Gillian; Mora, Josefina; Morton, Catherine; Moss, Cathryn; Murphy, Morgan; Murphy, Declan; Mzazi, Shumi; Nadolski, Maria; Newlin, Anna; Nogueira, Pedro; O'Keefe, Rachael; O'Toole, Karen; O'Connell, Shona; Ogden, Chris; Okoth, Linda; Oliveira, Jorge; Paez, Edgar; Palou, Joan; Park, Linda; Patel, Nafisa; Paulo Souto, João; Pearce, Allison; Peixoto, Ana; Perez, Kimberley; Petelin, Lara; Pichert, Gabriella; Poile, Charlotte; Potter, Alison; Preitner, Nadia; Purnell, Helen; Quinn, Ellen; Radice, Paolo; Rankin, Brigette; Rees, Katie; Renton, Caroline; Richardson, Kate; Risby, Peter; Rogers, Jason; Ruderman, Maggie; Ruiz, April; Sajoo, Anaar; Salvatore, Natale; Sands, Victoria; Sanguedolce, Francesco; Sattar, Ayisha; Saunders, Kathryn; Schofield, Lyn; Scott, Rodney; Searle, Anne; Sehra, Ravinder; Selkirk, Christina; Shackleton, Kylie; Shanley, Sue; Shaw, Adam; Shevrin, Daniel; Shipman, Hannah; Sidat, Zahirah; Siguake, Kas; Simon, Kate; Smyth, Courtney; Snadden, Lesley; Solanky, Nita; Solomons, Joyce; Sorrentino, Margherita; Stayner, Barbara; Stephenson, Robert; Stoffel, Elena; Thomas, Maggie; Thompson, Alan; Tidey, Lizzie; Tischkowitz, Marc; Torokwa, Audrey; Townshend, Sharron; Treherne, Katy; Tricker, Karen; Trinh, Quoc-Dien; Tripathi, Vishakha; Turnbull, Clare; Valdagni, Riccardo; Van As, Nicholas; Venne, Vickie; Verdon, Lizzie; Vitellaro, Marco; Vogel, Kristen; Walker, Lisa; Watford, Amy; Watt, Cathy; Weintroub, Ilana; Weiss, Shelly; Weissman, Scott; Weston, Michelle; Wiggins, Jennifer; Wise, Gillian; Woodhouse, Christopher; Yesildag, Pembe; Youngs, Alice; Yurgelun, Matthew; Zollo, Fabiana; Bancroft, Elizabeth K ; Page, Elizabeth C ; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rothwell, Jeanette; Lalloo, Fiona; Brady, Angela F; Bartlett, Marion; Snape, Katie; Hanson, Helen; James, Paul; McKinley, Joanne; Mascarenhas, Lyon; Syngal, Sapna; Ukaegbu, Chinedu; Side, Lucy; Thomas, Tessy; Barwell, Julian; Teixeira, Manuel R; Izatt, Louise; Suri, Mohnish; Macrae, Finlay A; Poplawski, Nicola; Chen-Shtoyerman, Rakefet; Ahmed, Munaza; Musgrave, Hannah; Nicolai, Nicola; Greenhalgh, Lynn; Brewer, Carole; Pachter, Nicholas; Spigelman, Allan D; Azzabi, Ashraf; Helfand, Brian T; Halliday, Dorothy; Buys, Saundra; Ramon y Cajal, Teresa; Donaldson, Alan; Cooney, Kathleen A; Harris, Marion; McGrath, John; Davidson, Rosemarie; Taylor, Amy; Cooke, Peter; Myhill, Kathryn; Hogben, Matthew; Aaronson, Neil K; Ardern-Jones, Audrey; Bangma, Chris H; Castro, Elena; Dearnaley, David; Dias, Alexander; Dudderidge, Tim; Eccles, Diana M; Green, Kate; Eyfjord, Jorunn; Falconer, Alison; Foster, Christopher S; Gronberg, Henrik; Hamdy, Freddie C; Johannsson, Oskar; Khoo, Vincent; Lilja, Hans; Lindeman, Geoffrey J; Lubinski, Jan; Axcrona, Karol; Mikropoulos, Christos; Mitra, Anita V; Moynihan, Clare; Ni Raghallaigh, Holly; Rennert, Gad; Collier, Rebecca; Offman, Judith; Kote-Jarai, Zsofia; Eeles, Rosalind A
In The Lancet Oncology November 2021 22(11):1618-1631
Academic Journal
Tenney, Alan P; Di Gioia, Silvio Alessandro; Webb, Bryn D; Chan, Wai-Man; de Boer, Elke; Garnai, Sarah J; Barry, Brenda J; Ray, Tammy; Kosicki, Michael; Robson, Caroline D; Zhang, Zhongyang; Collins, Thomas E; Gelber, Alon; Pratt, Brandon M; Fujiwara, Yuko; Varshney, Arushi; Lek, Monkol; Warburton, Peter E; Van Ryzin, Carol; Lehky, Tanya J; Zalewski, Christopher; King, Kelly A; Brewer, Carmen C; Thurm, Audrey; Snow, Joseph; Facio, Flavia M; Narisu, Narisu; Bonnycastle, Lori L; Swift, Amy; Chines, Peter S; Bell, Jessica L; Mohan, Suresh; Whitman, Mary C; Staffieri, Sandra E; Elder, James E; Demer, Joseph L; Torres, Alcy; Rachid, Elza; Al-Haddad, Christiane; Boustany, Rose-Mary; Mackey, David A; Brady, Angela F; Fenollar-Cortés, María; Fradin, Melanie; Kleefstra, Tjitske; Padberg, George W; Raskin, Salmo; Sato, Mario Teruo; Orkin, Stuart H; Parker, Stephen CJ; Hadlock, Tessa A; Vissers, Lisenka ELM; van Bokhoven, Hans; Jabs, Ethylin Wang; Collins, Francis S; Pennacchio, Len A; Manoli, Irini; Engle, Elizabeth C
Nature Genetics. 55(7)
Periodical
Vandersteen, Anthony M; Weerakkody, Ruwan A; Parry, David A; Kanonidou, Christina; Toddie-Moore, Daniel J; Vandrovcova, Jana; Darlay, Rebecca; Santoyo-Lopez, Javier; Meynert, Alison; Kazkaz, Hanadi; Grahame, Rodney; Cummings, Carole; Bartlett, Marion; Ghali, Neeti; Brady, Angela F; Pope, F Michael; van Dijk, Fleur S; Cordell, Heather J; Aitman, Timothy J
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p232-238, 7p
Academic Journal
Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Lasheras, Sandra Viz; Pujol, Roser; Kiiski, Johanna I; Muranen, Taru A; Barnes, Daniel R; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Leslie, Goska; Aalfs, Cora M; Adank, Muriel A; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A; Ahearn, Thomas; Aittomäki, Kristiina; Ambrosone, Christine B; Andrews, Lesley; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J; Arun, Banu K; Asseryanis, Ella; Auber, Bernd; Auvinen, Päivi; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barrowdale, Daniel; Barwell, Julian; Beane Freeman, Laura E; Beauparlant, Charles Joly; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Berger, Raanan; Bermisheva, Marina; Blanco, Amie M; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Anders; Bojesen, Stig E; Bonanni, Bernardo; Borg, Ake; Brady, Angela F; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S; Caldés, Trinidad; Caliebe, Almuth; Caligo, Maria A; Campa, Daniele; Campbell, Ian G; Canzian, Federico; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Claes, Kathleen BM; Clarke, Christine L; Collavoli, Anita; Conner, Thomas A; Cox, David G; Cybulski, Cezary; Czene, Kamila; Daly, Mary B; de la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Dite, Gillian S; Ditsch, Nina; Domchek, Susan M; Dorfling, Cecilia M; dos-Santos-Silva, Isabel; Durda, Katarzyna; Dwek, Miriam; Eccles, Diana M; Ekici, Arif B; Eliassen, A Heather; Ellberg, Carolina; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Foulkes, William D; Friebel, Tara M; Friedman, Eitan; Gabrielson, Marike; Gaddam, Pragna; Gago-Dominguez, Manuela
npj Breast Cancer. 5(1)
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
Twigg, Stephen RF; Hufnagel, Robert B; Miller, Kerry A; Zhou, Yan; McGowan, Simon J; Taylor, John; Craft, Jude; Taylor, Jenny C; Santoro, Stephanie L; Huang, Taosheng; Hopkin, Robert J; Brady, Angela F; Clayton-Smith, Jill; Clericuzio, Carol L; Grange, Dorothy K; Groesser, Leopold; Hafner, Christian; Horn, Denise; Temple, I Karen; Dobyns, William B; Curry, Cynthia J; Jones, Marilyn C; Wilkie, Andrew OM
American Journal of Human Genetics. 98(6)
Academic Journal
Bancroft, Elizabeth K; Page, Elizabeth C; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rothwell, Jeanette; Lalloo, Fiona; Brady, Angela F
Periodical
Philpott, Sue; Raikou, Maria; Manchanda, Ranjit; Lockley, Michelle; Singh, Naveena; Scott, Malcolm; Evans, D Gareth; Adlard, Julian; Ahmed, Munaza; Edmondson, Richard; Woodward, Emma Roisin; Lamnisos, Athena; Balega, Janos; Brady, Angela F; Sharma, Aarti; Izatt, Louise; Kulkarni, Anjana; Tripathi, Vishakha; Solomons, Joyce S; Hayes, Kevin; Hanson, Helen; Snape, Katie; Side, Lucy; Skates, Steve; McGuire, Alistair; Rosenthal, Adam N
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 5 p440-449, 10p
Academic Journal
Jones, Gabriela E; Ostergaard, Pia; Moore, Anthony T; Connell, Fiona C; Williams, Denise; Quarrell, Oliver; Brady, Angela F; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S; Vasudevan, Pradeep C; Mansour, Sahar
European Journal of Human Genetics. 22(7)
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