학술논문
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'학술논문'
에서 검색결과 303건 | 목록
1~20
Academic Journal
Jain, Namrata G.; Ahram, Dina F.; Marasa, Maddalena; Rehman, Ateeq U.; May, Halie J.; Zacharoulis, Stergios; Revah-Politi, Anya; Florido, Michelle E.; Whittemore, Gregory B.; Aggarwal, Vimla S.; Hargus, Gunnar; Anyane-Yeboa, Kwame; D’Agati, Vivette D.; Lin, Fangming; Jobanputra, Vaidehi; Sanna-Cherchi, Simone
Kidney Int Rep
Academic Journal
Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther ; Skinner, Cindy ; van der Sluijs, Pleuntje J. ; Maystadt, Isabelle ; Pinto, Anna Maria ; Renieri, Alessandra ; Bruno, Lucia Pia ; Granata, Stefania ; Marcelis, Carlo ; Baysal, Özlem ; Hartwich, Dewi ; Holthöfer, Laura ; Isidor, Bertrand ; Cogne, Benjamin ; Wieczorek, Dagmar ; Capra, Valeria ; Scala, Marcello ; De Marco, Patrizia ; Ognibene, Marzia ; Jamra, Rami Abou ; Platzer, Konrad ; Carter, Lauren B. ; Kuismin, Outi ; van Haeringen, Arie ; Maroofian, Reza ; Valenzuela, Irene ; Cuscó, Ivon ; Martinez-Agosto, Julian A. ; Rabani, Ahna M. ; Mefford, Heather C. ; Pereira, Elaine M. ; Close, Charlotte ; Anyane-Yeboa, Kwame ; Wagner, Mallory ; Hannibal, Mark C. ; Zacher, Pia ; Thiffault, Isabelle ; Beunders, Gea ; Umair, Muhammad ; Bhola, Priya T. ; McGinnis, Erin ; Millichap, John ; van de Kamp, Jiddeke M. ; Prijoles, Eloise J. ; Dobson, Amy ; Shillington, Amelle ; Graham, Brett H. ; Garcia, Evan-Jacob ; Galindo, Maureen Kelly ; Ropers, Fabienne G. ; Nibbeling, Esther A.R. ; Hubbard, Gail ; Karimov, Catherine ; Goj, Guido ; Bend, Renee ; Rath, Julie ; Morrow, Michelle M. ; Millan, Francisca ; Salpietro, Vincenzo ; Torella, Annalaura ; Nigro, Vincenzo ; Kurki, Mitja ; Stevenson, Roger E. ; Santen, Gijs W.E. ; Zweier, Markus ; Campeau, Philippe M. ; Severino, Mariasavina ; Reis, André ; Accogli, Andrea ; Vasileiou, Georgia
In Genetics in Medicine November 2023 25(11)
Academic Journal
Stacey R McGee; Shivakumar Rajamanickam; Sandeep Adhikari; Oluwatosin C Falayi; Theresa A Wilson; Brian J Shayota; Jessica A Cooley Coleman; Cindy Skinner; Raymond C Caylor; Roger E Stevenson; Caio Robledo D' Angioli Costa Quaio; Berenice Cunha Wilke; Jennifer M Bain; Kwame Anyane-Yeboa; Kaitlyn Brown; John M Greally; Emilia K Bijlsma; Claudia A L Ruivenkamp; Keren Politi; Lydia A Arbogast; Michael W Collard; Jodi I Huggenvik; Sarah H Elsea; Philip J Jensik
Human Molecular Genetics. 32:386-401
Academic Journal
Priyanka Ahimaz; Tamar Kramer; Pooja Swaroop; McKenzie Mitchell; Rebecca Hernan; Kwame Anyane‐Yeboa; Elaine M. Pereira
American Journal of Medical Genetics Part A. 188:3172-3183
Academic Journal
Gerarda Cappuccio; Camilla Ceccatelli Berti; Enrico Baruffini; Jennifer Sullivan; Vandana Shashi; Tamison Jewett; Tara Stamper; Silvia Maitz; Francesco Canonico; Anya Revah‐Politi; Gabriel S. Kupchik; Kwame Anyane‐Yeboa; Vimla Aggarwal; Andreas Benneche; Eirik Bratland; Siren Berland; Felice D'Arco; Cesar A. Alves; Adeline Vanderver; Daniela Longo; Enrico Bertini; Annalaura Torella; Vincenzo Nigro; Alessandra D'Amico; Marjo S. Knaap; Paola Goffrini; Nicola Brunetti‐Pierri
Hum Mutat
Telethon Undiagnosed Diseases Program 2021, 'Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease', Human Mutation, vol. 42, no. 6, pp. 745-761. https://doi.org/10.1002/humu.24210
Telethon Undiagnosed Diseases Program 2021, 'Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease', Human Mutation, vol. 42, no. 6, pp. 745-761. https://doi.org/10.1002/humu.24210
Academic Journal
van Jaarsveld, Richard H. ; Reilly, Jack ; Cornips, Marie-Claire ; Hadders, Michael A. ; Agolini, Emanuele ; Ahimaz, Priyanka ; Anyane-Yeboa, Kwame ; Bellanger, Severine Audebert ; van Binsbergen, Ellen ; van den Boogaard, Marie-Jose ; Brischoux-Boucher, Elise ; Caylor, Raymond C. ; Ciolfi, Andrea ; van Essen, Ton A.J. ; Fontana, Paolo ; Hopman, Saskia ; Iascone, Maria ; Javier, Margaret M. ; Kamsteeg, Erik-Jan ; Kerkhof, Jennifer ; Kido, Jun ; Kim, Hyung-Goo ; Kleefstra, Tjitske ; Lonardo, Fortunato ; Lai, Abbe ; Lev, Dorit ; Levy, Michael A. ; Lewis, M.E. Suzanne ; Lichty, Angie ; Mannens, Marcel M.A.M. ; Matsumoto, Naomichi ; Maya, Idit ; McConkey, Haley ; Megarbane, Andre ; Michaud, Vincent ; Miele, Evelina ; Niceta, Marcello ; Novelli, Antonio ; Onesimo, Roberta ; Pfundt, Rolph ; Popp, Bernt ; Prijoles, Eloise ; Relator, Raissa ; Redon, Sylvia ; Rots, Dmitrijs ; Rouault, Karen ; Saida, Ken ; Schieving, Jolanda ; Tartaglia, Marco ; Tenconi, Romano ; Uguen, Kevin ; Verbeek, Nienke ; Walsh, Christopher A. ; Yosovich, Keren ; Yuskaitis, Christopher J. ; Zampino, Giuseppe ; Sadikovic, Bekim ; Alders, Mariëlle ; Oegema, Renske
In Genetics in Medicine January 2023 25(1):49-62
Academic Journal
Lippa, Natalie; Bier, Louise; Revah-Politi, Anya; May, Halie; Kushary, Sulagna; Vena, Natalie; Giordano, Jessica L; Rasouly, Hila Milo; Cocchi, Enrico; Sands, Tristan T; Wapner, Ronald J; Anyane-Yeboa, Kwame; Gharavi, Ali G; Goldstein, David B
Genetics in Medicine. 24:862-869
Academic Journal
Lines, Matthew A.; Goldenberg, Paula; Wong, Ashley; Srivastava, Siddharth; Bayat, Allan; Hove, Hanne; Karstensen, Helena Gasdal; Anyane-Yeboa, Kwame; Liao, Jun; Jiang, Nan; May, Alison; Guzman, Edwin; Morleo, Manuela; D'Arrigo, Stefano; Ciaccio, Claudia; Pantaleoni, Chiara; Castello, Raffaele; McKee, Shane; Ong, Jinfon; Zibdeh-Lough, Hana; Tran-Mau-Them, Frederic; Gerasimenko, Anna; Heron, Delphine; Keren, Boris; Margot, Henri; Agathe, Jean-Madeleine de Sainte; Burglen, Lydie; Voets, Thomas; Vriens, Joris; Innes, A. Micheil; Dyment, David A.
American Journal of Medical Genetics Part A. 188:1667-1675
Academic Journal
Siddharth Banka; Abigail Bennington; Martin J Baker; Ellen Rijckmans; Giuliana D Clemente; Nurhuda Mohamad Ansor; Hilary Sito; Pritha Prasad; Kwame Anyane-Yeboa; Lauren Badalato; Boyan Dimitrov; David Fitzpatrick; Anna C E Hurst; Anna C Jansen; Melissa A Kelly; Ian Krantz; Claudine Rieubland; Meredith Ross; Natasha L Rudy; Javier Sanz; Katrien Stouffs; Zhuo Luan Xu; Angeliki Malliri; Marcelo G Kazanietz; Tom H Millard
Brain
Banka, S, Bennington, A, Baker, M J, Clemente, G, Rijckmans, E & Millard, T H 2022, 'Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.', Brain, vol. 145, no. 12, awac049, pp. 4232-4245. https://doi.org/10.1093/brain/awac049
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha;Anyane -Yeboa , Kwame ; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; ... (2022). Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology. Brain : a journal of neurology, 145(12), pp. 4232-4245. Oxford University Press 10.1093/brain/awac049
Banka, S, Bennington, A, Baker, M J, Rijckmans, E, Clemente, G D, Ansor, N M, Sito, H, Prasad, P,Anyane -Yeboa , K, Badalato, L, Dimitrov, B, Fitzpatrick, D, Hurst, A C E, Jansen, A C, Kelly, M A, Krantz, I, Rieubland, C, Ross, M, Rudy, N L, Sanz, J, Stouffs, K, Xu, Z L, Malliri, A, Kazanietz, M G & Millard, T H 2022, 'Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology', Brain, vol. 145, no. 12, awac049, pp. 4232-4245. https://doi.org/10.1093/brain/awac049
Banka, S, Bennington, A, Baker, M J, Clemente, G, Rijckmans, E & Millard, T H 2022, 'Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.', Brain, vol. 145, no. 12, awac049, pp. 4232-4245. https://doi.org/10.1093/brain/awac049
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha;
Banka, S, Bennington, A, Baker, M J, Rijckmans, E, Clemente, G D, Ansor, N M, Sito, H, Prasad, P,
Academic Journal
May, Halie J; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S; Chassevent, Anna; Baptista, Julia; Baugh, Evan H; Bier, Louise; Bottani, Armand; Carminho Amaro Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel Victor; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B; Roche, Katherine W; Anyane-Yeboa, Kwame
Genetics in Medicine. 23:1912-1921
Academic Journal
Kushary, Sulagna Tina; Revah-Politi, Anya; Barua, Subit; Ganapathi, Mythily; Accogli, Andrea; Aggarwal, Vimla; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Capra, Valeria; Fagerberg, Christina R; Gazdagh, Gabriella; Guzman, Edwin; Hadonou, Medard; Harrison, Victoria; Havelund, Kathrine; Iancu, Daniela; Kraus, Alison; Lippa, Natalie C; Mansukhani, Mahesh; McBrian, Danielle; McEntagart, Meriel; Pacio-Míguez, Marta; Palomares-Bralo, María; Pottinger, Carrie; Ruivenkamp, Claudia AL; Sacco, Oliviero; Santen, Gijs WE; Santos-Simarro, Fernando; Scala, Marcello; Short, John; Sørensen, Kristina P; Woods, Christopher G; DDD Study; TUDP Consortium; Anyane Yeboa, Kwame
Kushary, S T, Revah-Politi, A, Barua, S, Ganapathi, M, Accogli, A, Aggarwal, V, Brunetti-Pierri, N, Cappuccio, G, Capra, V, Fagerberg, C R, Gazdagh, G, Guzman, E, Hadonou, M, Harrison, V, Havelund, K, Iancu, D, Kraus, A, Lippa, N C, Mansukhani, M, McBrian, D, McEntagart, M, Pacio-Míguez, M, Palomares-Bralo, M, Pottinger, C, Ruivenkamp, C A L, Sacco, O, Santen, G W E, Santos-Simarro, F, Scala, M, Short, J, Sørensen, K P, Woods, C G, Anyane Yeboa , K, DDD Study & TUDP Consortium 2021, ' ZTTK syndrome : Clinical and molecular findings of 15 cases and a review of the literature ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3740-3753 . https://doi.org/10.1002/ajmg.a.62445
Book
Pediatric Secrets. :262-286
Academic Journal
Kaur, Maninder; Blair, Justin; Devkota, Batsal; Fortunato, Sierra; Clark, Dinah; Lawrence, Audrey; Kim, Jiwoo; Do, Wonwook; Semeo, Benjamin; Katz, Olivia; Mehta, Devanshi; Yamamoto, Nobuko; Schindler, Emma; Al Rawi, Zayd; Wallace, Nina; Wilde, Jonathan; McCallum, Jennifer; Liu, Jinglan; Xu, Dongbin; Jackson, Marie; Rentas, Stefan; Tayoun, Ahmad; Zhe, Zhang; Abdul-Rahman, Omar; Allen, Bill; Angula, Moris; Anyane-Yeboa, Kwame; Argente, Jesús; Arn, Pamela; Armstrong, Linlea; Basel-Salmon, Lina; Baynam, Gareth; Bird, Lynne; Bruegger, Daniel; Chng, Gaik-Siew; Chitayat, David; Clark, Robin; Cox, Gerald; Dave, Usha; DeBaere, Elfrede; Field, Michael; Graham, John; Gripp, Karen; Greenstein, Robert; Gupta, Neerja; Heidenreich, Randy; Hoffman, Jodi; Hopkin, Robert; Jones, Kenneth; Jones, Marilyn; Kariminejad, Ariana; Kogan, Jillene; Lace, Baiba; Leroy, Julian; Lynch, Sally; McDonald, Marie; Meagher, Kirsten; Mendelsohn, Nancy; Micule, Ieva; Moeschler, John; Nampoothiri, Sheela; Ohashi, Kaoru; Powell, Cynthia; Ramanathan, Subhadra; Raskin, Salmo; Roeder, Elizabeth; Rio, Marlene; Rope, Alan; Sangha, Karan; Scheuerle, Angela; Schneider, Adele; Shalev, Stavit; Siu, Victoria; Smith, Rosemarie; Stevens, Cathy; Tkemaladze, Tinatin; Toimie, John; Toriello, Helga; Turner, Anne; Wheeler, Patricia; White, Susan; Young, Terri; Loomes, Kathleen; Pipan, Mary; Harrington, Ann; Zackai, Elaine; Rajagopalan, Ramakrishnan; Conlin, Laura; Deardorff, Matthew; McEldrew, Deborah; Pie, Juan; Ramos, Feliciano; Musio, Antonio; Kline, Antonie; Izumi, Kosuke; Raible, Sarah; Krantz, Ian
The American Journal of Medical Genetics-Part A, vol 191, iss 8
Academic Journal
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-8 (2022)
Academic Journal
Hernan, Rebecca ; Cho, Megan T. ; Wilson, Ashley L. ; Ahimaz, Priyanka ; Au, Catherine ; Berger, Sara M. ; Guzman, Edwin ; Primiano, Michelle ; Shaw, Jessica E. ; Ross, Meredith ; Tabanfar, Leyla ; Chilton, Ilana ; Griffin, Emily ; Ratner, Chana ; Anyane-Yeboa, Kwame ; Iglesias, Alejandro ; Pisani, Laura ; Roohi, Jasmin ; Duong, Jimmy ; Martinez, Josue ; Appelbaum, Paul ; Klitzman, Robert ; Ottman, Ruth ; Chung, Wendy K. ; Wynn, Julia
In Patient Education and Counseling January 2020 103(1):127-135
Academic Journal
Brittany K Wise-Oringer; George J Zanazzi; Rebecca J Gordon; Sharon L Wardlaw; Christopher William; Kwame Anyane-Yeboa; Wendy K Chung; Brenda Kohn; Jeffrey H Wisoff; Raphael David; Sharon E Oberfield
The Journal of Clinical Endocrinology & Metabolism. 104:4667-4675
Academic Journal
Paul, Kruszka; Seth I, Berger; Karin, Weiss; Joshua L, Everson; Ariel F, Martinez; Sungkook, Hong; Kwame, Anyane-Yeboa; Robert J, Lipinski; Maximilian, Muenke
The American Journal of Human Genetics. 104:990-993
Academic Journal
Petrovski, Slavé ; Aggarwal, Vimla ; Giordano, Jessica L ; Stosic, Melissa ; Wou, Karen ; Bier, Louise ; Spiegel, Erica ; Brennan, Kelly ; Stong, Nicholas ; Jobanputra, Vaidehi ; Ren, Zhong ; Zhu, Xiaolin ; Mebane, Caroline ; Nahum, Odelia ; Wang, Quanli ; Kamalakaran, Sitharthan ; Malone, Colin ; Anyane-Yeboa, Kwame ; Miller, Russell ; Levy, Brynn ; Goldstein, David B ; Wapner, Ronald J
In The Lancet 23 February-1 March 2019 393(10173):758-767
Academic Journal
Pereira, Elaine M.; Ahimaz, Priyanka; Andrews, Carli; Anyane-Yeboa, Kwame; Arsov, Todor; Berger, Sara M.; Chilton, Ilana; Cory, Diana M.; Chung, Wendy K.; Dergham, Katia R.; Disco, Michele M.; Ernst, Michelle E.; Forman, Tamar; Galloway, Stephanie; Geltzeiler, Alexa R.; Giordano, Jessica L.; Griffin, Emily; Guzman, Edwin; Harkavy, Nina; Hernan, Rebecca; Hetzler, Anah K.; Iglesias, Alejandro; Kakar, Rupinder; Kentros, Catherine; Khonje, Thandiwe C.; Koval, Carrie; Levinson, Elana; Robinson, Scott; Ross, Meredith J.; Sadeque-Iqbal, Fatema; Spiegel, Erica; Spitz, Elana; Wapner, Ronald J.
Genet Med
Genetics in Medicine
Genetics in Medicine
Academic Journal
Volkan Okur; Megan T. Cho; Richard van Wijk; Brigitte van Oirschot; Jonathan Picker; Stephanie A. Coury; Dorothy Grange; Linda Manwaring; Ian Krantz; Colleen Clark Muraresku; Peter J. Hulick; Holley May; Eric Pierce; Emily Place; Kinga Bujakowska; Aida Telegrafi; Ganka Douglas; Kristin G. Monaghan; Amber Begtrup; Ashley Wilson; Kyle Retterer; Kwame Anyane-Yeboa; Wendy K. Chung
European Journal of Human Genetics. 27:1081-1089
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[검색어] Anyane-Yeboa, Kwame
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