학술논문
'학술논문'
에서 검색결과 291건 | 목록
1~10
Academic Journal
Giugliani, Roberto; Guelbert, Norberto; Hennermann, Julia; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth; Yarramaneni, Abhimanyu; Armstrong, Nicole; Kim, Yong; Kumar, Monica; Wasserstein, Melissa; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Mallawaarachchi, Amali C.; Fowles, Lindsay; Wardrop, Louise; Wood, Alasdair; O’Shea, Rosie; Biros, Erik; Harris, Trudie; Alexander, Stephen I; Bodek, Simon; Boudville, Neil; Burke, Jo; Burnett, Leslie; Casauria, Sarah; Chadban, Steve; Chakera, Aron; Crafter, Sam; Dai, Pei; De Fazio, Paul; Faull, Randall; Honda, Andrew; Huntley, Vanessa; Jahan, Sadia; Jayasinghe, Kushani; Jose, Matthew; Leaver, Anna; MacShane, Mandi; Madelli, Evanthia Olympia; Nicholls, Kathy; Pawlowski, Rhonda; Rangan, Gopi; Snelling, Paul; Soraru, Jacqueline; Sundaram, Madhivanan; Tchan, Michel; Valente, Giulia; Wallis, Mathew; Wedd, Laura; Welland, Matthew; Whitlam, John; Wilkins, Ella J; McCarthy, Hugh; Simons, Cas; Quinlan, Catherine; Patel, Chirag; Stark, Zornitza; Mallett, Andrew
Clinical Journal of the American Society of Nephrology. May 03, 2024
Academic Journal
Melissa P. Wasserstein; Robin Lachmann; Carla Hollak; Antonio Barbato; Renata C. Gallagher; Roberto Giugliani; Norberto Bernardo Guelbert; Julia B. Hennermann; Takayuki Ikezoe; Olivier Lidove; Paulina Mabe; Eugen Mengel; Maurizio Scarpa; Ebubekir Senates; Michel Tchan; Jesus Villarrubia; Beth L. Thurberg; Abhimanyu Yarramaneni; Nicole M. Armstrong; Yong Kim; Monica Kumar
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Academic Journal
Wasserstein, Melissa P.; Lachmann, Robin; Hollak, Carla; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Yarramaneni, Abhimanyu; Armstrong, Nicole M.; Kim, Yong; Kumar, Monica
Orphanet Journal of Rare Diseases. 18(1)
Academic Journal
Fellner, Avi; Wali, Gurusidheshwar M.; Mahant, Neil; Grosz, Bianca R.; Ellis, Melina; Narayanan, Ramesh K.; Ng, Karl; Davis, Ryan L.; Tchan, Michel C.; Kotschet, Katya; Yeow, Dennis; Rudaks, Laura I.; Siow, Sue-Faye; Wali, Gautam; Yiannikas, Con; Hobbs, Matthew; Copty, Joseph; Geaghan, Michael; Darveniza, Paul; Liang, Christina; Williams, Laura J.; Chang, Florence C.F.; Morales-Briceño, Hugo; Tisch, Stephen; Hayes, Michael; Whyte, Scott; Kummerfeld, Sarah; Kennerson, Marina L.; Cowley, Mark J.; Fung, Victor S.C.; Sue, Carolyn M.; Kumar, Kishore R.
In Parkinsonism and Related Disorders July 2024 124
Academic Journal
Rachel Austin; Jaye S. Brown; Sarah Casauria; Evanthia O. Madelli; Tessa Mattiske; Tiffany Boughtwood; Alejandro Metke; Andrew Davis; Ari E. Horton; David Winlaw; Debjani Das; Magdalena Soka; Eleni Giannoulatou; Emma M. Rath; Eric Haan; Gillian M. Blue; Jitendra Vohra; John J. Atherton; Karin van Spaendonck-Zwarts; Kathy Cox; Leslie Burnett; Mathew Wallis; Matilda Haas; Michael C.J. Quinn; Nicholas Pachter; Nicola K. Poplawski; Zornitza Stark; Richard D. Bagnall; Robert G. Weintraub; Sarah-Jane Pantaleo; Sebastian Lunke; Paul De Fazio; Tina Thompson; Paul James; Yuchen Chang; Diane Fatkin; Ivan Macciocca; Jodie Ingles; Sally L. Dunwoodie; Chris Semsarian; Julie McGaughran; Lesley Ades; Annabel Enriquez; Alison McLean; Renee Smyth; Dimithu Alankarage; James McNamara; Morgan almog; Vanessa Fear; Caroline Medi; Mohammad Al-Shinnag; Miriam Fine; Raymond Sy; Keri Finlay; Di Milnes; Dotti Tang; Denisse Garza; Michael Milward; Jessica Taylor; Ansley Morrish; Shelby Taylor; Chris Barnett; Laura Gongolidis; Jim Morwood; Michel Tchan; Belinda Gray; Helen Mountain; Simon Bodek; Cassie Greer; David Mowat; Jordan Thorpe; Kirsten Boggs; Chai-Ann Ng; Alison Trainer; Michael Bogwitz; Mathilda Haas; Natalie Nowak; Gunjan Trivedi; Bernadette Hanna; Noelia Nunez Martinez; Giulia Valente; Alessandra Bray; Richard Harvey; Monique Ohanian; Marie-Jo Brion; Janette Hayward; Sinead O’Sullivan; Jamie Vandenberg; Jaye Brown; Carmen Herrera; Angela Overkov; Kunal Verma; Rob Bryson Richardson; Adam Hill; Miranda Vidgen; Georgie Hollingsworth; Chirag Patel; Charlotte Burns; Georgina Hollway; Mark Perrin; Kathryn Waddel-Smith; Michelle Cao; Matthew Perry; Will Carr; Denise Howting; Andreas Pflaumer; Peta Phillips; Meredith Wilson; Heather Chalinor; Joanne Isbister; Thuan Phuong; Matilda Jackson; Rachel Pope-Couston; Lisa Worgan; Gavin Chapman; Linda Wornham; Theosodia Charitou; Sarah Jane-Pantaleo; Preeti Punni; Kathy Wu; Belinda Chong; Renee Johnson; Laura Yeates; Felicity Collins; Andrew Kelly; Michael Quinn; Dominica Zentner; Gemma Correnti; Sarah King-Smith; Sulekha Rajagopalan; Edwin Kirk; Hariharan Raju; Fiona Cunningham; Sarah Kummerfeld; Timo Lassman; Matthew Regan; Jason Davis; Jonathon Lipton; Jonathan Rogers; Mark Ryan; Sarah Sandaradura; Michelle de Silva; Paul MacIntyre; Nicole Schonrock; Nicola Den Elzen; Paul Scuffham; Sophie Devery; Amali Mallawaarachchi; Julia Dobbins; Julia Mansour; Isabella Sherburn; Ellenore Martin; Mary-Clare Sherlock; Nathan Dwyer; Jacob Mathew; Emma Singer; Stefanie Elbracht-Leong; Carla Smerdon; David Elliott; Janine Smith
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Academic Journal
Jayasinghe, Kushani; Biros, Erik; Harris, Trudie; Wood, Alasdair; O’Shea, Rosie; Hill, Lauren; Fowles, Lindsay; Wardrop, Louise; Shalhoub, Carolyn; Hahn, Deirdre; Rangan, Gopala; Kevin, Lucy; Tchan, Michel; Snelling, Paul; Sandow, Rhiannon; Sundaram, Madhivan; Chaturvedi, Swasti; Trnka, Peter; Faull, Randall; Poplawski, Nicola K.; Huntley, Vanessa; Garza, Denisse; Wallis, Mathew; Jose, Matthew; Leaver, Anna; Trainer, Alison H.; Wilkins, Ella J.; White, Sue; Elbaum, Yoni; Prawer, Yael; Krzesinski, Emma; Valente, Giulia; Winship, Ingrid; Ryan, Jessica; Whitlam, John; Nicholls, Kathy; West, Kirsty; Donaldson, Liz; Johnstone, Lilian; Lewit-Mendes, Miranda; Kerr, Peter G.; Bodek, Simon; Chakera, Aron; MacShane, Mandi; Mincham, Christine; Stackpoole, Elaine; Willis, Francis; Soraru, Jacqueline; Pachter, Nick; Bennetts, Bruce; Forbes, Thomas A.; Mallawaarachchi, Amali; Quinlan, Catherine; Patel, Chirag; McCarthy, Hugh; Goranitis, Illias; Best, Stephanie; Alexander, Stephen; Stark, Zornitza; Mallett, Andrew J.
In Kidney International Reports April 2024
Academic Journal
Ades, Lesley; Enriquez, Annabel; McLean, Alison; Smyth, Renee; Alankarage, Dimithu; Fatkin, Diane; McNamara, James; Soka, Magdalena; Morgan almog; Fear, Vanessa; Medi, Caroline; Stark, Zornitza; Al-Shinnag, Mohammad; Fine, Miriam; Metke, Alejandro; Sy, Raymond; Atherton, John J.; Finlay, Keri; Milnes, Di; Tang, Dotti; Austin, Rachel; Garza, Denisse; Milward, Michael; Taylor, Jessica; Bagnall, Richard D.; Giannoulatou, Eleni; Morrish, Ansley; Taylor, Shelby; Barnett, Chris; Gongolidis, Laura; Morwood, Jim; Tchan, Michel; Blue, Gillian M.; Gray, Belinda; Mountain, Helen; Thompson, Tina; Bodek, Simon; Greer, Cassie; Mowat, David; Thorpe, Jordan; Boggs, Kirsten; Haan, Eric; Ng, Chai-Ann; Trainer, Alison; Bogwitz, Michael; Haas, Mathilda; Nowak, Natalie; Trivedi, Gunjan; Boughtwood, Tiffany; Hanna, Bernadette; Martinez, Noelia Nunez; Valente, Giulia; Bray, Alessandra; Harvey, Richard; Ohanian, Monique; van Spaendonck-Zwarts, Karin; Brion, Marie-Jo; Hayward, Janette; O’Sullivan, Sinead; Vandenberg, Jamie; Brown, Jaye; Herrera, Carmen; Overkov, Angela; Verma, Kunal; Richardson, Rob Bryson; Hill, Adam; Pachter, Nicholas; Vidgen, Miranda; Burnett, Leslie; Hollingsworth, Georgie; Patel, Chirag; Vohra, Jitendra; Burns, Charlotte; Hollway, Georgina; Perrin, Mark; Waddel-Smith, Kathryn; Cao, Michelle; Horton, Ari E.; Perry, Matthew; Wallis, Mathew; Carr, Will; Howting, Denise; Pflaumer, Andreas; Weintraub, Robert G.; Casauria, Sarah; Ingles, Jodie; Phillips, Peta; Wilson, Meredith; Chalinor, Heather; Isbister, Joanne; Phuong, Thuan; Winlaw, David; Chang, Yuchen; Jackson, Matilda; Pope-Couston, Rachel; Worgan, Lisa; Chapman, Gavin; James, Paul; Poplawski, Nicola K.; Wornham, Linda; Charitou, Theosodia; Jane-Pantaleo, Sarah; Punni, Preeti; Wu, Kathy; Chong, Belinda; Johnson, Renee; Quinn, Michael C.J.; Yeates, Laura; Collins, Felicity; Kelly, Andrew; Quinn, Michael; Zentner, Dominica; Correnti, Gemma; King-Smith, Sarah; Rajagopalan, Sulekha; Cox, Kathy; Kirk, Edwin; Raju, Hariharan; Cunningham, Fiona; Kummerfeld, Sarah; Rath, Emma M.; Das, Debjani; Lassman, Timo; Regan, Matthew; Davis, Jason; Lipton, Jonathon; Rogers, Jonathan; Davis, Andrew; Lunke, Sebastian; Ryan, Mark; De Fazio, Paul; Macciocca, Ivan; Sandaradura, Sarah; de Silva, Michelle; MacIntyre, Paul; Schonrock, Nicole; Den Elzen, Nicola; Madelli, Evanthia O.; Scuffham, Paul; Devery, Sophie; Mallawaarachchi, Amali; Semsarian, Chris; Dobbins, Julia; Mansour, Julia; Sherburn, Isabella; Dunwoodie, Sally L.; Martin, Ellenore; Sherlock, Mary-Clare; Dwyer, Nathan; Mathew, Jacob; Singer, Emma; Elbracht-Leong, Stefanie; Mattiske, Tessa; Smerdon, Carla; Elliott, David; McGaughran, Julie; Smith, Janine; Brown, Jaye S.; Haas, Matilda; Pantaleo, Sarah-Jane
In Genetics in Medicine Open 2024 2
Academic Journal
Ashley Hertzog; Arthavan Selvanathan; Elizabeth Farnsworth; Michel Tchan; Louisa Adams; Katherine Lewis; Adviye Ayper Tolun; Bruce Bennetts; Gladys Ho; Kaustuv Bhattacharya
Frontiers in Genetics, Vol 13 (2022)
Academic Journal
In Metabolism March 2022 128
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