학술논문
'학술논문'
에서 검색결과 25건 | 목록
1~10
Academic Journal
Hewson, Laura; Choo, Amanda; Webber, Dani L.; Trim, Paul J.; Snel, Marten F.; Fedele, Anthony O.; Hopwood, John J.; Hemsley, Kim M.; O'Keefe, Louise V.
Journal of Inherited Metabolic Disease; Mar2024, Vol. 47 Issue 2, p340-354, 15p
Academic Journal
Hewson, Laura; Choo, Amanda; Webber, Dani L.; Trim, Paul J.; Snel, Marten F.; Fedele, Anthony O.; Hopwood, John J.; Hemsley, Kim M.; O'Keefe, Louise V.
Periodical
Kayumi, Sayaka; Pérez-Jurado, Luis A.; Palomares, María; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; García-Miñaúr, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P.A.; Sinnema, Margje; Stevens, Servi C.J.; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
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
Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P.L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard I.; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementina; Mancini, Cecilia; Claps Sepulveda, Dianela Judith; McWalter, Kirsty; Begtrup, Amber; Crunk, Amy; Guillen Sacoto, Maria J.; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; MacLennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; Rad, Aboulfazl; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C.
American Journal of Human Genetics. October 7, 2021, Vol. 108 Issue 10, 2006
Academic Journal
Webber, Dani L.; Choo, Amanda; Hewson, Laura J.; Trim, Paul J.; Snel, Marten F.; Hopwood, John J.; Richards, Robert I.; Hemsley, Kim M.; O'Keefe, Louise V.
Academic Journal
Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
Nature Genetics. 52(10):1046-1056
Academic Journal
Pham, Ryan; Mol, Ben W.; Gecz, Jozef; MacLennan, Alastair H.; MacLennan, Suzanna C.; Corbett, Mark A.; van Eyk, Clare L.; Webber, Dani L.; Palmer, Lyle J.; Berry, Jesia G.
Academic Journal
van Eyk, Clare L.; Samaraweera, Saumya E.; Scott, Andrew; Webber, Dani L.; Harvey, David P.; Mecinger, Olivia; O'Keefe, Louise, V; Cropley, Jennifer E.; Young, Paul; Ho, Joshua; Suter, Catherine; Richards, Robert, I
Academic Journal
Corbett, Mark A.; van Eyk, Clare L.; Webber, Dani L.; Bent, Stephen J.; Newman, Morgan; Harper, Kelly; Berry, Jesia G.; Azmanov, Dimitar N.; Woodward, Karen J.; Gardner, Alison E.; Slee, Jennie; Pérez-Jurado, Luís A.; MacLennan, Alastair H.; Gecz, Jozef
npj Genomic Medicine. 4(1)
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[AR] Webber, Dani L.
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