Ohcanbohtosat - Eleanor G. Seaby

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  1. 1
    Exome sequencing explained: a practical guide to its clinical application

    Exome sequencing explained: a practical guide to its clinical application Dahkki Eleanor G. Seaby, Reuben J. Pengelly, Sarah Ennis

    Almmustuhtton 2015
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  2. 2
    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes Dahkki Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
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  3. 3
    <i>NOD2</i>in Crohn’s Disease—Unfinished Business

    <i>NOD2</i>in Crohn’s Disease—Unfinished Business Dahkki James J. Ashton, Eleanor G. Seaby, R. Mark Beattie, Sarah Ennis

    Almmustuhtton 2022
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  4. 4
    Collagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

    Collagen (<i>COL4A</i>) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis Dahkki Christine Gast, Reuben J. Pengelly, Matthew Lyon, David J. Bunyan, Eleanor G. Seaby, Nikki Graham, Gopalakrishnan Venkat‐Raman, Sarah Ennis

    Almmustuhtton 2015
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  5. 5
    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly

    Mutations specific to the Rac-GEF domain of<i>TRIO</i>cause intellectual disability and microcephaly Dahkki Reuben J. Pengelly, Stephanie Greville‐Heygate, Susanne Schmidt, Eleanor G. Seaby, M. Reza Jabalameli, Sarju Mehta, Michael Parker, David Goudie, Christine Fagotto‐Kaufmann, Catherine Mercer, Anne Debant, Sarah Ennis, Diana Baralle

    Almmustuhtton 2016
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  6. 6
    The benefits of being a near-peer teacher

    The benefits of being a near-peer teacher Dahkki Samuel Hall, Charlotte H. Harrison, Jonny Stephens, Matheus Gesteria Andrade, Eleanor G. Seaby, William Parton, Simon McElligott, Matthew Myers, Ahmad Elmansouri, Michael J. Ahn, Rachel Parrott, Claire F. Smith, Scott Border

    Almmustuhtton 2018
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  7. 7
    Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

    Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease Dahkki Christine Gast, Anthony M. Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, Gopalakrishnan Venkat‐Raman

    Almmustuhtton 2018
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  8. 8
    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

    Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance Dahkki Htoo A. Wai, Jenny Lord, Matthew Lyon, Adam C. Gunning, Hugh Kelly, Penelope Cibin, Eleanor G. Seaby, Kerry Spiers-Fitzgerald, Jed J. Lye, Sian Ellard, N. Simon Thomas, David J. Bunyan, Andrew G. L. Douglas, Diana Baralle

    Almmustuhtton 2020
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  9. 9
    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

    Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data Dahkki Moriel Singer‐Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood, Rachel G. Son, Nicholas A. Watts, Konrad J. Karczewski, Steven M. Harrison, Daniel G. MacArthur, Heidi L. Rehm, Anne O’Donnell‐Luria

    Almmustuhtton 2023
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  10. 10
    Treatment of Multisystem Inflammatory Syndrome in Children

    Treatment of Multisystem Inflammatory Syndrome in Children Dahkki Andrew McArdle, Ortensia Vito, Harsita Patel, Eleanor G. Seaby, Priyen Shah, Clare Wilson, Claire Broderick, Ruud Nijman, Adriana Tremoulet, Daniel Munblit, Rolando Ulloa‐Gutiérrez, Michael J. Carter, Tisham De, Clive Hoggart, Elizabeth Whittaker, Jethro Herberg, Myrsini Kaforou, Aubrey J. Cunnington, Michael Levin

    Almmustuhtton 2021
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  11. 11
    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency Dahkki David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie-Christine Nougues, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

    Almmustuhtton 2020
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  12. 12
    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations

    Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations Dahkki Mariana Moysés‐Oliveira, Giuliana Giannuzzi, Richard J. Fish, Jill A. Rosenfeld, Florence Petit, Maria de Fátima Soares, Leslie Domenici Kulikowski, Adriana Di‐Battista, Malú Zamariolli, Fan Xia, Thomas Liehr, Nadezda Kosyakova, Gianna Carvalheira, Michael Parker, Eleanor G. Seaby, Sarah Ennis, Rodney D. Gilbert, R. Tanner Hagelstrom, María Laura Cremona, Wenhui L. Li, Alka Malhotra, Anjana Chandrasekhar, Denise Perry, Ryan J. Taft, Julie McCarrier, Donald Basel, Joris Andrieux, Taiza Stumpp, Fernanda Antunes, Gustavo J.S. Pereira, Marguerite Neerman‐Arbez, Vera Ayres Meloni, Margaret Drummond‐Borg, Maria Isabel Melaragno, Alexandre Reymond

    Almmustuhtton 2017
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  13. 13
    The mutational constraint spectrum quantified from variation in 141,456 humans

    The mutational constraint spectrum quantified from variation in 141,456 humans Dahkki Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

    Almmustuhtton 2019
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  14. 14
    Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

    Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans Dahkki Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Benjamin M. Neale, Mark J. Daly, Daniel G. MacArthur

    Almmustuhtton 2021
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  15. 15
    The mutational constraint spectrum quantified from variation in 141,456 humans

    The mutational constraint spectrum quantified from variation in 141,456 humans Dahkki Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González, Leif Groop

    Almmustuhtton 2020
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  16. 16
    Transcript expression-aware annotation improves rare variant interpretation

    Transcript expression-aware annotation improves rare variant interpretation Dahkki Beryl B. Cummings, Konrad J. Karczewski, Jack A. Kosmicki, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer‐Berk, Jonathan M. Mudge, Juha Karjalainen, F. Kyle Satterstrom, Anne O’Donnell‐Luria, Timothy Poterba, Cotton Seed, Matthew Solomonson, Jessica Alföldi, Jessica Alföldi, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, Ryan L. Collins, Kristen M. Connolly, Miguel Covarrubias, Beryl B. Cummings, Mark J. Daly, Stacey Donnelly, Yossi Farjoun, Steven Ferriera, Laurent C. Francioli, Stacey Gabriel, Laura D. Gauthier, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Konrad J. Karczewski, Kristen M. Laricchia, Christopher Llanwarne, Eric Vallabh Minikel, Ruchi Munshi, Benjamin M. Neale, Sam Novod, Anne O’Donnell‐Luria, Nikelle Petrillo, Timothy Poterba, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Kaitlin E. Samocha, Molly Schleicher, Cotton Seed, Matthew Solomonson, José Soto, Grace Tiao, Kathleen Tibbetts, Charlotte Tolonen, Christopher Vittal, Gordon Wade, Arcturus Wang, Qingbo Wang, James S. Ware, Nicholas A. Watts, Ben Weisburd, Nicola Whiffin, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, John Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, André Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González

    Almmustuhtton 2020
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  17. 17
    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

    Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans Dahkki Sanna Gudmundsson, Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, Ryan L. Collins, Kristen M. Laricchia, Andrea Ganna, Daniel P. Birnbaum, Laura D. Gauthier, Harrison Brand, Matthew Solomonson, Nicholas A. Watts, Daniel R. Rhodes, Moriel Singer‐Berk, Eleina England, Eleanor G. Seaby, Jack A. Kosmicki, Raymond K. Walters, Katherine Tashman, Yossi Farjoun, Eric Banks, Timothy Poterba, Arcturus Wang, Cotton Seed, Nicola Whiffin, Jessica X. Chong, Kaitlin E. Samocha, Emma Pierce‐Hoffman, Zachary Zappala, Anne O’Donnell‐Luria, Eric Vallabh Minikel, Ben Weisburd, Monkol Lek, James S. Ware, Christopher Vittal, Irina M. Armean, Louis Bergelson, Kristian Cibulskis, Kristen M. Connolly, Miguel Covarrubias, Stacey Donnelly, Steven Ferriera, Stacey Gabriel, Jeff Gentry, Namrata Gupta, Thibault Jeandet, Diane Kaplan, Christopher Llanwarne, Ruchi Munshi, Sam Novod, Nikelle Petrillo, David Roazen, Valentín Ruano-Rubio, Andrea Saltzman, Molly Schleicher, José Soto, Kathleen Tibbetts, Charlotte Tolonen, Gordon Wade, Michael E. Talkowski, Carlos A. Aguilar‐Salinas, Tariq Ahmad, Christine M. Albert, Diego Ardissino, Gil Atzmon, J. A. Barnard, Laurent Beaugerie, Emelia J. Benjamin, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Böttinger, Donald W. Bowden, Matthew J. Bown, John C. Chambers, Juliana C.N. Chan, Daniel I. Chasman, Judy H. Cho, Mina K. Chung, Bruce M. Cohen, Adolfo Correa, Dana Dabelea, Mark J. Daly, Dawood Darbar, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosúa, Jeanette Erdmann, Tõnu Esko, Martti Färkkilâ, José C. Florez, Andre Franke, Gad Getz, Benjamin Gläser, Stephen J. Glatt, David Goldstein, Clicerio González

    Almmustuhtton 2021
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  18. 18
    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

    Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability Dahkki María del Rocío Pérez Baca, Eva Jacobs, Lies Vantomme, Pontus Leblanc, Elke Bogaert, Annelies Dheedene, Laurenz De Cock, Sadegheh Haghshenas, Aidin Foroutan, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Chun‐An Chen, Nurit Assia Batzir, Xia Wang, María Palomares‐Bralo, Marieke Carels, Pankaj B. Agrawal, Daryl A. Scott, Elizabeth Barkoudah, Melissa Bellini, Claire Bénéteau, Kathrine Bjørgo, Alice S. Brooks, Natasha J. Brown, Alison M. R. Castle, Diana Castro, Odelia Chorin, Mark Cleghorn, Emma Clement, David Coman, Carrie Costin, Koenraad Devriendt, Daixing Dong, Annika M. Dries, Tina Duelund Hjortshøj, David A. Dyment, Christine M. Eng, Casie A. Genetti, Siera Grano, Peter Henneman, Delphine Héron, Katrin Hoffmann, Jason Hom, Haowei Du, Maria Iascone, Bertrand Isidor, Irma Järvelä, Julie R. Jones, Boris Keren, Mary Kay Koenig, Jürgen Kohlhase, Seema R. Lalani, Cédric Le Caignec, Andrew Lewis, Pengfei Liu, Alysia Kern Lovgren, James R. Lupski, Mike Lyons, Philippe A. Lysy, Melanie Manning, Carlo Marcelis, Scott McLean, Sandra Mercie, Mareike Mertens, Arnaud Molin, Mathilde Nizon, Kimberly Nugent, Susanna Öhman, Melanie O’Leary, Rebecca O. Littlejohn, Florence Petit, Rolph Pfundt, Lorraine Pottocki, Annick Raas‐Rotschild, Kara Ranguin, Nicole Revençu, Jill A. Rosenfeld, Lindsay Rhodes, Fernando Santos Simmaro, Karen Sals, Jolanda Schieving, Isabelle Schrauwen, Janneke Schuurs-Hoeijmakers, Eleanor G. Seaby, Ruth Sheffer, Lot Snijders Blok, Kristina P. Sørensen, Siddharth Srivastava, Zornitza Stark, Radka Stoeva, Chloe Stutterd, Natalie B. Tan, Pernille Mathiesen Tørring, Olivier Vanakker, Liselot van der Laan, Athina Ververi, Pablo Villavicencio‐Lorini, Marie Vincent, Dorothea Wand

    Almmustuhtton 2024
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  19. 19
    Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

    Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study Dahkki Samuel Channon‐Wells, Ortensia Vito, Andrew McArdle, Eleanor G. Seaby, Harsita Patel, Priyen Shah, Ekaterina Pazukhina, Clare Wilson, Claire Broderick, Giselle D’Souza, Ilana Keren, Ruud Nijman, Adriana Tremoulet, Daniel Munblit, Rolando Ulloa‐Gutiérrez, Michael J. Carter, Padmanabhan Ramnarayan, Tisham De, Clive Hoggart, Elizabeth Whittaker, Jethro Herberg, Myrsini Kaforou, Aubrey J. Cunnington, Oleg Blyuss, Michael Levin, Mohamed Chouli, N Hamadouche, Mohamed Samir Ladj, Jorge Agrimbau Vázquez, Rodrigo Carmona, Adrián Collia, Alejandro Ellis, Diego Natta, Laura Mariño, Mayra Rubiños, Natalia Veliz, Silvana Yori, Philip N Britton, David Burgner, Emma Carey, Nigel W. Crawford, H Giuliano, Alissa McMinn, Shirley Wong, Nicholas Wood, Wolfgang Holter, Matthias Krainz, Raphael Ulreich, Christoph Zurl, Joke Dehoorne, Filomeen Haerynck, Levi Hoste, Petra Schelstraete, Kristof Vandekerckhove, Jef Willems, Camila Giuliana Almeida Farias, Flávia Jacqueline Almeida, Izabel Alves Leal, André Ricardo Araújo da Silva, Anna Esther Araújo e Silva, Sabrina T.A. Barreiro, Daniella Gregória Bomfim Prado da Silva, Maria Célia Cervi, Mirian Viviane dos Santos Naja Cardoso, Cristiane Henriques Teixeira, Daniel Jarovsky, Juliènne Martins Araújo, Eitan Naaman Berezin, Marco Aurélio Palazzi Sáfadi, Rolando Andres Paternina-de la Ossa, Cristina Souza Vieira, Anna Dimitrova, Margarita Ganeva, Stefan Stefanov, Albena Telcharova-Mihaylovska, Catherine M. Biggs, Alison Lopez, Rosie Scuccimarri, Ryan Tan, Sam Wasserman, Davinia E. Withington, Camila Ampuero, Javiera Aravena, Raúl Bustos, Daniel Casanova, Pablo Cruces, Franco Díaz, Tamara García‐Salum, Loreto Godoy, Rafael Medina, Gonzalo Valenzuela Galaz, Germán Camacho-Moreno, María L. Ávila-Agüero, Helena Brenes-Chacón, Kattia Camacho-Badilla, Gabriela Ivankovich‐Escoto, Gabriela Naranjo-Zuñiga, Alejandra Soriano‐Fallas, Rolando Ulloa‐Gutiérrez, Adriana Yock‐Corrales

    Almmustuhtton 2023
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