检索结果 - Alona Sosinsky
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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism 由 Suzanne Alsters, Anthony P. Goldstone, Jessica L. Buxton, Anna Zekavati, Alona Sosinsky, Andrianos M. Yiorkas, Susan Holder, Robert Klaber, Nicola Bridges, Mieke M. van Haelst, Carel W. le Roux, Andrew J. Walley, Robin Walters, Michael Mueller, Alexandra I. F. Blakemore
出版 2015Artigo -
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Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution 由 Jose Espejo Valle-Inclán, Solange De Noon, Katherine Trevers, Hillary Elrick, Ianthe A. E. M. van Belzen, Sonia Zumalave, Carolin M. Sauer, M. Tanguy, Thomas Butters, Francesc Muyas, Alistair G. Rust, Fernanda Amary, Roberto Tirabosco, Adam Giess, Alona Sosinsky, Greg Elgar, Adrienne M. Flanagan, Isidro Cortés‐Ciriano
出版 2025Artigo -
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SAVANA: reliable analysis of somatic structural variants and copy number aberrations using long-read sequencing 由 Hillary Elrick, Carolin M. Sauer, Jose Espejo Valle-Inclán, Katherine Trevers, M. Tanguy, Sonia Zumalave, Solange De Noon, Francesc Muyas, Rita Cascão, Ângela Afonso, Alistair G. Rust, Fernanda Amary, Roberto Tirabosco, Adam Giess, Timothy M. Freeman, Alona Sosinsky, Katherine Piculell, David T. Miller, Cláudia C. Faria, Greg Elgar, Adrienne M. Flanagan, Isidro Cortés‐Ciriano
出版 2025Artigo -
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Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme 由 Alona Sosinsky, John C. Ambrose, William Cross, Clare Turnbull, Shirley Henderson, J. Louise Jones, Angela Hamblin, Prabhu Arumugam, G. C. Chan, Daniel Chubb, Boris Noyvert, Jonathan Mitchell, Susan Walker, Katy Bowman, Dorota Pasko, M. B. Pereira, Nadezda Volkova, Antonio Rueda-Martin, D. Perez-Gil, Javier Ferreiros, J. Pullinger, Afshan Siddiq, Tala Zainy, Tasnim Choudhury, Olena Yavorska, Tom Fowler, David Bentley, Clare Kingsley, Sandra Hing, Zandra C. Deans, Augusto Rendon, Sue Hill, Mark J. Caulfield, Nirupa Murugaesu
出版 2024Artigo -
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The genomic landscape of 2,023 colorectal cancers 由 Alex J. Cornish, Andreas Gruber, Ben Kinnersley, Daniel Chubb, Anna Frangou, Giulio Caravagna, Boris Noyvert, Eszter Lakatos, Henry M. Wood, S. Thorn, Richard Culliford, Claudia Arnedo-Pac, Jacob Househam, William Cross, Amit Sud, Philip Law, Máire Ní Leathlobhair, Aliah Hawari, Connor E. Woolley, Kitty Sherwood, Nathalie Feeley, Güler Gül, Juan Fernández‐Tajes, Luís Zapata, Ludmil B. Alexandrov, Nirupa Murugaesu, Alona Sosinsky, Jonathan Mitchell, Núria López-Bigas, Philip Quirke, David N. Church, Ian Tomlinson, Andrea Sottoriva, Trevor A. Graham, David C. Wedge, Richard S. Houlston
出版 2024Artigo -
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Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update 由 Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy J. Hearn, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, S. A. Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, M. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sophie Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, Marc Tischkowitz, Eamonn R. Maher
出版 2022Revisão -
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Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease 由 Omid Sadeghi‐Alavijeh, Melanie Chan, Shabbir H. Moochhala, Sarah Howles, Daniel P. Gale, Detlef Böckenhauer, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Bingyang Shi, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood
出版 2023Artigo -
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The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas 由 Mary E. Booth, Henry M. Wood, Mark A. Travis, J. C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C. R. Boustred, H. Brittain, Melissa A. Brown, M. J. Caulfield, Gcf Chan, A. Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, A. C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, E. Williams, Katarzyna Witkowska, Scott Wood, Magdalena Zarowiecki, Philip Quirke, Heike I. Grabsch
出版 2025Artigo -
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The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer 由 Jamie Trotman, Ruth Armstrong, Helen V. Firth, Claire Trayers, James Watkins, Kieren Allinson, Thomas S. Jacques, James C. Nicholson, G.A. Amos Burke, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, D. Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Ashley Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, S. R. Thompson, Arianna Tucci, M. J. Welland, Elena Williams, Katarzyna Witkowska, S. M. Wood, Sam Behjati, Matthew J. Murray, C. Elizabeth Hook, Patrick Tarpey
出版 2022Artigo -
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Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis 由 Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood
出版 2022Artigo -
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Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping 由 Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, F. Joel Leong, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mónica Pérez‐Gil, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, Afshan Siddiq, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen
出版 2023Artigo -
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders 由 Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda M. Beaman, Panagiotis I. Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, Andrew R. Webster, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, K. Witkowsa, S. M. Wood, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme Black, Jamie M. Ellingford
出版 2021Artigo -
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Substitution mutational signatures in whole-genome–sequenced cancers in the UK population 由 Andrea Degasperi, Xueqing Zou, Tauanne Dias Amarante, Andrea Martinez-Martinez, Ching Chiek Koh, João M.L. Dias, Laura Heskin, Lucia Chmelova, Giuseppe Rinaldi, Valerie Ya Wen Wang, Arjun S. Nanda, Aaron Bernstein, Sophie Momen, Jamie Young, D. Perez-Gil, Yasin Memari, Cherif Badja, Scott Shooter, Jan Czarnecki, Matthew A. Brown, Helen Davies, Serena Nik‐Zainal, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, M. J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Stephen Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sean Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Elaine Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elena Williams, Katarzyna Witkowska, Scott Wood
出版 2022Artigo -
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An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease 由 Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai‐Uwe Eckardt, Anthony J. Bleyer, Anna Köttgen, Peter J. Conlon, Michael S. Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst, John C. Ambrose, Paramasivam Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Myles Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Steve Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Miguel Basto-Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Erik A. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki
出版 2022Artigo -
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Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia 由 Zhongbo Chen, Arianna Tucci, Valentina Cipriani, Emil K. Gustavsson, Kristina Ibáñez, Regina H. Reynolds, David Zhang, Letizia Vestito, Alejandro Cisterna‐García, Siddharth Sethi, Jonathan Brenton, Sonia García-Ruiz, Aine Fairbrother-Browne, Ana-Luisa Gil-Martínez, John C. Ambrose, Prabhu Arumugam, Marta Bleda, F. Boardman-Pretty, Jeanne M. Boissiere, C. R. Boustred, Clare E H Craig, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió‐Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim Hubbard, R. Jackson, J. Louise Jones, Melis Kayikci, L. Lahnstein, Kay Lawson, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, F. Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A Odhams, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, K. Savage, Kushmita Sawant, Afshan Siddiq, A. Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Răzvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood, Magdalena Zarowiecki, Nicholas Wood, John Hardy, Damian Smedley, Henry Houlden, Juan A. Botía, Mina Ryten
出版 2023Artigo -
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Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition 由 Helena Martins Custodio, Lisa M. Clayton, Ravishankara Bellampalli, Susanna Pagni, Katri Silvennoinen, Richard Caswell, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, Georgia C Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim J P Hubbard, Robert B. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Anna Lakey, Sarah E A Leigh, Ivonne U S Leong, Javier F Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jonathan Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A Odhams, Christine Patch, D. Perez-Gil, Marina B Pereira, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen R A Thomas, Simon R. Thompson, Arianna Tucci, Matthew J Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M Wood, Magdalena Zarowiecki, Andreas Brunklaus, Renzo Guerrini, Bobby P.C. Koeleman, Johannes R. Lemke, Rikke S. Møller, Ingrid E. Scheffer, Sarah Weckhuysen, Federico Zara, Sameer M. Zuberi, Karoline Kuchenbaecker, Simona Balestrini, James D. Mills, Sanjay M. Sisodiya
出版 2023Artigo
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