학술논문
'학술논문'
에서 검색결과 35건 | 목록
1~10
Academic Journal
Deuis, Jennifer R; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M; Vetter, Irina
Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p
Academic Journal
Fennell, Andrew Paul; Baxter, Anne Elizabeth; Berkovic, Samuel Frank; Ellaway, Carolyn Jane; Forwood, Caitlin; Hildebrand, Michael Stephen; Kumble, Smitha; McKeown, Colina; Mowat, David; Poke, Gemma; Rajagopalan, Sulekha; Regan, Brigid M.; Scheffer, Ingrid Eileen; Stark, Zornitza; Stutterd, Chloe Alice; Tan, Tiong Yang; Wilkins, Ella Jane; Yeung, Alison; Hunter, Matthew Frank
American Journal of Medical Genetics. Part A; Dec2022, Vol. 188 Issue 12, p3432-3447, 16p
Academic Journal
Deuis, Jennifer R.; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M.; Vetter, Irina
Academic Journal
Academic Journal
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane‐Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos‐Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denommé‐Pichon, Anne‐Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fiévet, Alice
Human Mutation; Feb2022, Vol. 43 Issue 2, p266-282, 17p
Periodical
Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen I.; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; Engel, Amanda; Ewans, Lisa J.; Faiz, Fathimath; Fennell, Andrew; Field, Michael; Freckmann, Mary-Louise; Gallacher, Lyndon; Gear, Russell; Goel, Himanshu; Goh, Shuxiang; Goodwin, Linda; Hanna, Bernadette; Harraway, James; Higgins, Megan; Ho, Gladys; Hopper, Bruce K.; Horton, Ari E.; Hunter, Matthew F.; Huq, Aamira J.; Josephi-Taylor, Sarah; Joshi, Himanshu; Kirk, Edwin; Krzesinski, Emma; Kumar, Kishore R.; Lemckert, Frances; Leventer, Richard J.; Lindsey-Temple, Suzanna E.; Lunke, Sebastian; Ma, Alan; Macaskill, Steven; Mallawaarachchi, Amali; Marty, Melanie; Marum, Justine E.; McCarthy, Hugh J.; Menezes, Manoj P.; McLean, Alison; Milnes, Di; Mohammad, Shekeeb; Mowat, David; Niaz, Aram; Palmer, Elizabeth E.; Patel, Chirag; Patel, Shilpan G.; Phelan, Dean; Pinner, Jason R.; Rajagopalan, Sulekha; Regan, Matthew; Rodgers, Jonathan; Rodrigues, Miriam; Roxburgh, Richard H.; Sachdev, Rani; Roscioli, Tony; Samarasekera, Ruvishani; Sandaradura, Sarah A.; Savva, Elena; Schindler, Tim; Shah, Margit; Sinnerbrink, Ingrid B.; Smith, Janine M.; Smith, Richard J.; Springer, Amanda; Stark, Zornitza; Strom, Samuel P.; Sue, Carolyn M.; Tan, Kenneth; Tan, Tiong Y.; Tantsis, Esther; Tchan, Michel C.; Thompson, Bryony A.; Trainer, Alison H.; van Spaendonck-Zwarts, Karin; Walsh, Rebecca; Warwick, Linda; White, Stephanie; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Wong, Wui Kwan; Wright, Dale C.; Yap, Patrick; Yeung, Alison; Young, Helen; Jones, Kristi J.; Bennetts, Bruce; Cooper, Sandra T.; Abdulrasool, Ghusoon; Akesson, Lauren S.; Al Eryani, Ghamdan; Al-Shinnag, Mohammad; Arts, Peer; Bagnall, Richard; Baker, Naomi L.; Barnett, Christopher; Beecroft, Sarah; Bennetts, Bruce; Berbic, Marina; Beshay, Victoria; Black, Michael; Blackburn, Jim; Blombery, Piers; Boggs, Kirsten; Bournazos, Adam M.; Branford, Susan; Breen, Jimmy; Brown, Natasha J.; Bryen, Samantha J.; Burnett, Leslie; Canson, Daffodil; Cheong, Pak; Chew, Edward; Chong, Belinda; Christodoulou, John; Chung, Seo-Kyung; Clark, Mike; Cliffe, Corrina; Cole, Melissa; Collins, Felicity; Compton, Alison; Cooper, Antony; Cooper, Sandra T.; Corbett, Mark; Cowley, Mark; Davis, Mark R.; Delatycki, Martin; Dudding, Tracy; Edwards, Matthew; Eggers, Stefanie; Ewans, Lisa J.; Eyras, Eduardo; Faiz, Fathimath; Fernandez, Miriam Fanjul; Fellowes, Andrew; Fennell, Andrew; Field, Michael; Fleischer, Ron; Folland, Chiara; Fox, Lucy; Freckmann, Mary-Louise; Gaff, Clara; Galea, Melanie; Ghaoui, Roula; Goel, Himanshu; Gornanitis, Ilias; Ha, Thuong; Hanna, Bernadette; Harraway, James; Hayashi, Rippei; Hayes, Ian; Henderson, Alex; Hesson, Luke; Heyer, Erin; Hildebrand, Michael; Hipwell, Michael; Ho, Gladys; Horton, Ari E.; Hoskins, Cass; Hunter, Matthew F.; Jackson, Matilda; James, Paul; Jones, Kristi J.; Wong, Justin Jong-Leong; Josephi-Taylor, Sarah; Joshi, Himanshu; Kassahn, Karin; Kaub, Peter; Kevin, Lucy; Kirk, Edwin; Krzesinski, Emma; Kumble, Smitha; Kummerfeld, Sarah; Laing, Nigel; Lau, Chiyan; Lee, Eric; Leighton, Sarah; Lundie, Ben; Lunke, Sebastian; Mallawaarachchi, Amali; Mayoh, Chelsea; McGaughran, Julie; McLean, Alison; McPhillips, Mary; Meldrum, Cliff; Middleton, Edwina; Milnes, Di; Mina, Kym; Mowat, David; Nisselle, Amy; Oates, Emily; Oshlack, Alicia; Palmer, Elizabeth E.; Parasivam, Gayathri; Parsons, Michael; Patel, Chirag; Pinner, Jason R.; Quinn, Michael; Rasko, John; Ravenscroft, Gina; Ravine, Anja; Recsei, Krista; Regan, Matthew; Rehn, Jacqueline; Riley, Lisa G.; Robertson, Stephen; Ronan, Anne; Roscioli, Tony; Ryland, Georgina; Sadedin, Simon; Sandaradura, Sarah A.; Schreiber, Andreas; Scott, Hamish; Scott, Rodney; Semsarian, Christopher; Simons, Cas; Singer, Emma; Smith, Janine M.; Smyth, Renee; Spurdle, Amanda; Stark, Zornitza; Sullivan, Patricia; Sundercombe, Samantha; Tan, Tiong Y.; Tchan, Michel C.; Thompson, Bryony A.; Thorburn, David; Toubia, John; Trent, Ronald; Tudini, Emma; Voneague, Irina; Waddell, Leigh; Walker, Logan; Wallis, Mathew; Warnock, Nick; Weatheritt, Robert; White, Deborah; White, Susan M.; Williams, Mark G.; Wilson, Meredith J.; Winship, Ingrid; Worgan, Lisa; Wright, Dale C.; Wu, Kathy; Yeung, Alison; Ziolowski, Andrew
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p130-145, 16p
Academic Journal
Stark, Zornitza; Lunke, Sebastian; Brett, Gemma R.; Tan, Natalie B.; Stapleton, Rachel; Kumble, Smitha; Yeung, Alison; Phelan, Dean G.; Chong, Belinda; Fernandez, Miriam Fanjul; Marum, Justine E.; Hunter, Matthew; Jarmolowicz, Anna; Prawer, Yael; Riseley, Jessica R.; Regan, Matthew; Elliott, Justine; Martyn, Melissa; Best, Stephanie; Tan, Tiong Y.; Gaff, Clara L.; White, Susan M.
In Pathology February 2018 50 Supplement 1:S59-S59
Periodical
Expert Opinion on Emerging Drugs; October 2021, Vol. 26 Issue: 4 p425-431, 7p
Academic Journal
Lunke, Sebastian; Eggers, Stefanie; Wilson, Meredith; Patel, Chirag; Barnett, Christopher P.; Pinner, Jason; Sandaradura, Sarah A.; Buckley, Michael F.; Krzesinski, Emma I.; de Silva, Michelle G.; Brett, Gemma R.; Boggs, Kirsten; Mowat, David; Kirk, Edwin P.; Adès, Lesley C.; Akesson, Lauren S.; Amor, David J.; Ayres, Samantha; Baxendale, Anne; Borrie, Sarah; Bray, Alessandra; Brown, Natasha J.; Chan, Cheng Yee; Chong, Belinda; Cliffe, Corrina; Delatycki, Martin B.; Edwards, Matthew; Elakis, George; Fahey, Michael C.; Fennell, Andrew; Fowles, Lindsay; Gallacher, Lyndon; Higgins, Megan; Howell, Katherine B.; Hunt, Lauren; Hunter, Matthew F.; Jones, Kristi J.; King, Sarah; Kumble, Smitha; Lang, Sarah; Le Moing, Maelle; Ma, Alan; Phelan, Dean; Quinn, Michael C. J.; Richards, Anna; Richmond, Christopher M.; Riseley, Jessica; Rodgers, Jonathan; Sachdev, Rani; Sadedin, Simon; Schlapbach, Luregn J.; Smith, Janine; Springer, Amanda; Tan, Natalie B.; Tan, Tiong Y.; Temple, Suzanna L.; Theda, Christiane; Vasudevan, Anand; White, Susan M.; Yeung, Alison; Zhu, Ying; Martyn, Melissa; Best, Stephanie; Roscioli, Tony; Christodoulou, John; Stark, Zornitza
Obstetrical & Gynecological Survey. Nov 01, 2020 75(11):662-664
Academic Journal
Kumble, Smitha; Levy, Amanda M.; Punetha, Jaya; Gao, Hua; Ah Mew, Nicholas; Anyane-Yeboa, Kwame; Benke, Paul J.; Berger, Sara M.; Bjerglund, Lise; Campos-Xavier, Belinda; Ciliberto, Michael; Cohen, Julie S.; Comi, Anne M.; Curry, Cynthia; Damaj, Lena; Denomme-Pichon, Anne-Sophie; Emrick, Lisa; Faivre, Laurence; Fasano, Mary Beth; Fievet, Alice; Finkel, Richard S.; Garcia-Minaur, Sixto; Gerard, Amanda; Gomez-Puertas, Paulino; Guillen Sacoto, Maria J.; Hoffman, Trevor L.; Howard, Lillian; Iglesias, Alejandro D.; Izumi, Kosuke; Larson, Austin; Leiber, Anja; Lozano, Reymundo; Marcos-Alcalde, Inigo; Mintz, Cassie S.; Mullegama, Sureni V.; Moller, Rikke S.; Odent, Sylvie; Oppermann, Henry; Ostergaard, Elsebet; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Paulson, Anna M.; Platzer, Konrad; Posey, Jennifer E.; Potocki, Lorraine; Revah-Politi, Anya; Rio, Marlene; Ritter, Alyssa L.; Robinson, Scott; Rosenfeld, Jill A.; Santos-Simarro, Fernando; Sousa, Sergio B.; Weber, Mathys; Xie, Yili; Chung, Wendy K.; Brown, Natasha J.; Tumer, Zeynep
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