Ohcanbohtosat - M. Marttila
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Structures for polyinosinic acid and polyguanylic acid Dahkki Struther Arnott, Rengaswami Chandrasekaran, Constance M. Marttila
Almmustuhtton 1974Artigo -
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Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations Dahkki M. Marttila, Mubashir Hanif, Elina Lemola, Kristen L. Nowak, Jenni Laitila, Mikaela Grönholm, Carina Wallgren‐Pettersson, Katarina Pelin
Almmustuhtton 2014Artigo -
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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies Dahkki Vilma‐Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, M. Marttila, Carol Saunders, P. G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas Winder, Katarina Pelin, Carina Wallgren‐Pettersson
Almmustuhtton 2014Artigo -
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K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity Dahkki Nancy Mokbel, Biljana Ilkovski, Michaela Kreissl, Massimiliano Memo, Cy M. Jeffries, M. Marttila, Vilma‐Lotta Lehtokari, Elina Lemola, Mikaela Grönholm, Nan Yang, Dominique Ménard, Pascale Marcorelles, Andoni Echaniz‐Laguna, Jens Reimann, Mariz Vainzof, Nicole Monnier, Gianina Ravenscroft, Elyshia McNamara, Kristen L. Nowak, Nigel G. Laing, Carina Wallgren‐Pettersson, Jill Trewhella, Steven B. Marston, Coen A. C. Ottenheijm, Kathryn N. North, Nigel F. Clarke
Almmustuhtton 2013Artigo -
5
Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in<i>TPM2</i>and<i>TPM3</i>Causing Congenital Myopathies Dahkki M. Marttila, Vilma‐Lotta Lehtokari, Steven B. Marston, Tuula A. Nyman, Christine Barnérias, Alan H. Beggs, Enrico Bertini, Ozge Ceyhan‐Birsoy, Pascal Cintas, Marion Gérard, Brigitte Gilbert‐Dussardier, Jacob S. Hogue, Cheryl Longman, B. Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hanns Lochmüller, Laurent Magy, Véronique Manel, M. Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, William Stewart, Ana Lía Taratuto, Marjolein Visser, Ekkehard Wilichowski, J. Winer, Kristen L. Nowak, Nigel G. Laing, Tom Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm, Carina Wallgren‐Pettersson
Almmustuhtton 2014Artigo -
6
Genome-wide Association Study of Long COVID Dahkki Vilma Lammi, Tomoko Nakanishi, Samuel E. Jones, Shea J. Andrews, Juha Karjalainen, Beatriz Cortés, Heath O’Brien, Brian Fulton‐Howard, Hele Haapaniemi, Axel Schmidt, Ruth E. Mitchell, Abdou Mousas, Massimo Mangino, Alicia Huerta-Chagoya, Nasa Sinnott-Armstrong, Elizabeth T. Cirulli, Marc Vaudel, Alex S. F. Kwong, Amit K. Maiti, M. Marttila, Chiara Batini, Francesca Minnai, Anna Dearman, Robert Warmerdam, Celia Burgos Sequeros, Thomas W. Winkler, Daniel M. Jordan, Lindsay Guare, Ekaterina Vergasova, Eirini Marouli, Pasquale Striano, Ummu Afeera Zainulabid, Ashutosh Kumar, Hajar Fauzan Ahmad, Ryuya Edahiro, Shuhei Azekawa, Joseph J. Grzymski, Makoto Ishii, Yukinori Okada, Noam D. Beckmann, Meena Kumari, Ralf Wagner, Iris M. Heid, Catherine John, Patrick Short, Per Magnus, Karina Banasik, Frank Geller, Lude Franke, Alexander Rakitko, Emma L. Duncan, Alessandra Renieri, Konstantinos K. Tsilidis, Rafael de Cid, Ahmadreza Niavarani, Teresa Tusié‐Luna, Shefali S. Verma, George Davey Smith, Nicholas J. Timpson, Mark J. Daly, Andrea Ganna, Eva C. Schulte, J. Brent Richards, Kerstin U. Ludwig, Michael Hultström, Hugo Zeberg, Hanna M. Ollila
Almmustuhtton 2023Pré-impressão -
7
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Dahkki Emily C. Oates, Kristi Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair Corbett, Monique M. Ryan, Gina O’Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, M. Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, M. Leach, A. Reghan Foley, Diana Bharucha‐Goebel, James J. Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho‐Ming Luk, Neil H. Thomas, Nicola Foulds, Marjorie Illingworth, Sian Ellard, Catriona McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik‐Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, C. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing
Almmustuhtton 2018Artigo -
8
Genome-wide association study of long COVID Dahkki Vilma Lammi, Tomoko Nakanishi, Samuel E. Jones, Shea J. Andrews, Juha Karjalainen, Beatriz Cortés, Heath O’Brien, Ana Ochoa-Guzmán, Brian Fulton‐Howard, Martin Broberg, Hele Haapaniemi, Masahiro Kanai, Matti Pirinen, Axel Schmidt, Ruth E. Mitchell, Abdou Mousas, Massimo Mangino, Alicia Huerta-Chagoya, Nasa Sinnott-Armstrong, Elizabeth T. Cirulli, Marc Vaudel, Alex S. F. Kwong, Amit K. Maiti, M. Marttila, Daniel Posner, Alexis Rodriguez, Chiara Batini, Francesca Minnai, Anna Dearman, Robert Warmerdam, Celia Burgos Sequeros, Thomas W. Winkler, Daniel M. Jordan, Raimonds Reščenko, Lorenzo Miano, Jacqueline M. Lane, Ryan Chung, Beatriz Guillén‐Guío, Olivia C. Leavy, Laura Carvajal-Silva, Kevin Aguilar-Valdés, Erika Frangione, Lindsay Guare, Ekaterina Vergasova, Eirini Marouli, Pasquale Striano, Ummu Afeera Zainulabid, Ashutosh Kumar, Hajar Fauzan Ahmad, Ryuya Edahiro, Shuhei Azekawa, Shiuh‐Wen Luoh, Christian Erikstrup, Ole Birger Pedersen, Jordan Lerner‐Ellis, Alicia Colombo, Joseph J. Grzymski, Makoto Ishii, Yukinori Okada, Noam D. Beckmann, Meena Kumari, Ralf Wagner, Iris M. Heid, Catherine John, Patrick Short, Per Magnus, Laura Ansone, Luca Valenti, Sulggi A. Lee, Louise V. Wain, Ricardo A. Verdugo, Karina Banasik, Frank Geller, Lude Franke, Alexander Rakitko, Emma L. Duncan, Alessandra Renieri, Konstantinos K. Tsilidis, Rafael de Cid, Ahmadreza Niavarani, Erik Abner, Teresa Tusié‐Luna, Shefali S. Verma, George Davey Smith, Nicholas J. Timpson, Ravi Madduri, Kelly Cho, Mark J Daly, Andrea Ganna, Eva C. Schulte, J. Brent Richards, Kerstin U. Ludwig, Michael Hultström, Hugo Zeberg, Hanna M. Ollila
Almmustuhtton 2025Artigo -
9
Mapping the human genetic architecture of COVID-19 Dahkki Mari Niemi, Juha Karjalainen, Rachel G. Liao, Benjamin M. Neale, Mark J. Daly, Andrea Ganna, Gita A. Pathak, Shea J. Andrews, Masahiro Kanai, Kumar Veerapen, Israel Fernández‐Cadenas, Eva C. Schulte, Pasquale Striano, M. Marttila, Camelia C. Minică, Eirini Marouli, Mohd Anisul Karim, Frank R. Wendt, Jeanne E. Savage, Laura Sloofman, Guillaume Butler‐Laporte, Han‐Na Kim, Stavroula Kanoni, Yukinori Okada, Jinyoung Byun, Younghun Han, Mohammed Jashim Uddin, George Davey Smith, Cristen J. Willer, Joseph D. Buxbaum, Juha Mehtonen, Hilary K. Finucane, Mattia Cordioli, Alicia R. Martin, Wei Zhou, Bogdan Paşaniuc, Hanna Julienne, Hugues Aschard, Huwenbo Shi, Loïc Yengo, Renato Polimanti, Maya Ghoussaini, Jeremy Schwartzentruber, Ian Dunham, Karolina Chwiałkowska, Margherita Francescatto, Amy Trankiem, Mary K. Balaconis, Lea K. Davis, Sulggi A. Lee, James R. Priest, Alessandra Renieri, Vijay G. Sankaran, David A. van Heel, Patrick Deelen, J. Brent Richards, Tomoko Nakanishi, Les Biesecker, V. Eric Kerchberger, J. Kenneth Baillie, Francesca Mari, Anna Bernasconi, J. Kenneth Baillie, Arif Canakoglu, Brooke N. Wolford, Annika Faucon, Atanu Kumar Dutta, Claudia Schurmann, Emi N. Harry, Ewan Birney, Huy Nguyen, Jamal Nasir, Mari Kaunisto, Matthew Solomonson, Nicole Dueker, Nirmal Vadgama, Sophie Limou, Souad Rahmouni, Hamdi Mbarek, Dima Darwish, Md Mesbah Uddin, Raquel Albertos, Jordi Pérez‐Tur, Ruolin Li, Lasse Folkersen, Ida Moltke, Nils Koelling, Alexander Teumer, Athanasios Kousathanas, Alicia Utrilla, Ricardo A. Verdugo, Ruth Zárate, Carolina Medina‐Gómez, David Gómez-Cabrero, Elena Carnero‐Montoro, Carmen L. Cadilla, Andrés Moreno‐Estrada, Adriana Garmendia, Leire Moya, Bahareh Sedaghati-khayat
Almmustuhtton 2021Revisão -
10
A second update on mapping the human genetic architecture of COVID-19 Dahkki Masahiro Kanai, Shea J. Andrews, Mattia Cordioli, Christine Stevens, Benjamin M. Neale, Mark J. Daly, Andrea Ganna, Gita A. Pathak, Akiko Iwasaki, Juha Karjalainen, Juha Mehtonen, Matti Pirinen, Karolina Chwiałkowska, Amy Trankiem, Mary K. Balaconis, Kumar Veerapen, Brooke N. Wolford, Hajar Fauzan Ahmad, Shea J. Andrews, Kathrin Aprile von Hohenstaufen Puoti, Cindy G. Boer, Palwendé Romuald Boua, Guillaume Butler‐Laporte, Carmen L. Cadilla, Karolina Chwiałkowska, Francesca Colombo, Venceslas Douillard, Nicole Dueker, Atanu Kumar Dutta, Yasser M. El‐Sherbiny, Madonna M. Eltoukhy, Sahar Esmaeeli, Annika Faucon, Marie-Julie Favé, Israel Fernández Cadenas, Margherita Francescatto, Laurent C. Francioli, Lude Franke, Macarena Fuentes‐Guajardo, Rocío Gallego Durán, David Gómez-Cabrero, Emi N. Harry, Philip R. Jansen, József Szentpéteri, Elżbieta Kaja, Masahiro Kanai, Chloe Kirk, Athanasios Kousathanas, José Eduardo Krieger, Sanjay Patel, Audrey Lemaçon, Sophie Limou, Píetro Lió, Eirini Marouli, M. Marttila, Carolina Medina‐Gómez, Yael Michaeli, Isabelle Migeotte, Soumyajit Mondal, Andrés Moreno‐Estrada, Leire Moya, Tomoko Nakanishi, Jamal Nasir, Dorote Pasko, Nathaniel M. Pearson, Alexandre C. Pereira, James R. Priest, Vid Prijatelj, Ivana Nedeljković, Alexander Teumer, Réka Várnai, Manuel Romero‐Gómez, Christina Roos, Jeffrey Rosenfeld, Ruolin Li, Eva C. Schulte, Claudia Schurmann, Bahareh Sedaghati-khayat, Doaa Shaheen, Ilangumaran Shivanathan, Csilla Sipeky, Zhou Sirui, Pasquale Striano, Yosuke Tanigawa, Alicia Utrilla Remesal, Nirmal Vadgama, Costanza L. Vallerga, Sander W. van der Laan, Ricardo A. Verdugo, Qingbo Wang, Wei Zhou, Ummu Afeera Zainulabid, Ruth N. Zárate, Adam Auton, Janie F. Shelton, Anjali J. Shastri, Catherine H. Weldon, Teresa Filshtein-Sonmez, Daniella Coker, Antony Symons
Almmustuhtton 2023Carta
Ohcanreaiddut:
Laktáseaddji fáttát
Biology
Gene
Genetics
Medicine
Coronavirus disease 2019 (COVID-19)
Disease
Infectious disease (medical specialty)
Pathology
Actin
Biopsy
Cell biology
Computational biology
Congenital myopathy
Genome-wide association study
Genotype
Internal medicine
Muscle biopsy
Mutation
Myocyte
Nebulin
Nemaline myopathy
Phenotype
Sarcomere
Single-nucleotide polymorphism
Titin
Tropomyosin
2019-20 coronavirus outbreak
Anatomy
Chemistry
Environmental health