Hasil Pencarian - Martin Engvall

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  1. 1
    Gunnar Jungner and the Principles and Practice of Screening for Disease

    Gunnar Jungner and the Principles and Practice of Screening for Disease oleh Lars Jungner, Ingmar Jungner, Martin Engvall, Ulrika von Döbeln

    Diterbitkan 2017-08-01
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  2. 2
    Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

    Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON) oleh Martin Engvall, Martin Engvall, Aki Kawasaki, Valerio Carelli, Valerio Carelli, Rolf Wibom, Rolf Wibom, Helene Bruhn, Helene Bruhn, Nicole Lesko, Nicole Lesko, Florian A. Schober, Anna Wredenberg, Anna Wredenberg, Anna Wedell, Anna Wedell, Frank Träisk, Frank Träisk

    Diterbitkan 2021-03-01
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  3. 3
    Elevated plasma phospholipid n-3 docosapentaenoic acid concentrations during hibernation.

    Elevated plasma phospholipid n-3 docosapentaenoic acid concentrations during hibernation. oleh Birgitta Strandvik, Abdul Rashid Qureshi, Johanna Painer, Carolina Backman-Johansson, Martin Engvall, Ole Fröbert, Jonas Kindberg, Peter Stenvinkel, Sylvain Giroud

    Diterbitkan 2023-01-01
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  4. 4
    Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain

    Overweight and obesity impair left ventricular systolic function as measured by left ventricular ejection fraction and global longitudinal strain oleh Peter Blomstrand, Peter Sjöblom, Mats Nilsson, Magnus Wijkman, Martin Engvall, Toste Länne, Fredrik H. Nyström, Carl Johan Östgren, Jan Engvall

    Diterbitkan 2018-08-01
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  5. 5
    Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data

    Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data oleh Lene Sörensen, Ulrika von Döbeln, Henrik Åhlman, Annika Ohlsson, Martin Engvall, Karin Naess, Carolina Backman-Johansson, Yvonne Nordqvist, Anna Wedell, Rolf H. Zetterström

    Diterbitkan 2020-05-01
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  6. 6
    Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

    Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disord... oleh Marlene Ek, Marlene Ek, Daniel Nilsson, Daniel Nilsson, Daniel Nilsson, Martin Engvall, Martin Engvall, Helena Malmgren, Helena Malmgren, Håkan Thonberg, Håkan Thonberg, Maria Pettersson, Maria Pettersson, Britt-Marie Anderlid, Britt-Marie Anderlid, Anna Hammarsjö, Anna Hammarsjö, Hafdis T. Helgadottir, Hafdis T. Helgadottir, Snjolaug Arnardottir, Karin Naess, Karin Naess, Inger Nennesmo, Martin Paucar, Martin Paucar, Helgi Thor Hjartarson, Rayomand Press, Göran Solders, Göran Solders, Thomas Sejersen, Thomas Sejersen, Anna Lindstrand, Anna Lindstrand, Malin Kvarnung, Malin Kvarnung

    Diterbitkan 2023-05-01
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  7. 7
    The impact of gender, puberty, and pregnancy in patients with POLG disease

    The impact of gender, puberty, and pregnancy in patients with POLG disease oleh Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Christian Samsonsen, Eylert Brodtkorb, Elsebet Ostergaard, Rene de Coo, Leticia Pias‐Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff

    Diterbitkan 2020-10-01
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  8. 8
    Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations

    Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations oleh Jingdian Zhang, Camilla Koolmeister, Jinming Han, Roberta Filograna, Leo Hanke, Monika Àdori, Daniel J. Sheward, Sina Teifel, Shreekara Gopalakrishna, Qiuya Shao, Yong Liu, Keying Zhu, Robert A. Harris, Gerald McInerney, Ben Murrell, Mike Aoun, Liselotte Bäckdahl, Rikard Holmdahl, Marcin Pekalski, Anna Wedell, Martin Engvall, Anna Wredenberg, Gunilla B. Karlsson Hedestam, Xaquin Castro Dopico, Joanna Rorbach

    Diterbitkan 2023-09-01
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  9. 9
    Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

    Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions oleh Montse Olivé, Martin Engvall, Gianina Ravenscroft, Macarena Cabrera-Serrano, Hong Jiao, Carlo Augusto Bortolotti, Marcello Pignataro, Matteo Lambrughi, Haibo Jiang, Alistair R. R. Forrest, Núria Benseny-Cases, Stefan Hofbauer, Christian Obinger, Gianantonio Battistuzzi, Marzia Bellei, Marco Borsari, Giulia Di Rocco, Helena M. Viola, Livia C. Hool, Josep Cladera, Kristina Lagerstedt-Robinson, Fengqing Xiang, Anna Wredenberg, Francesc Miralles, Juan José Baiges, Edoardo Malfatti, Norma B. Romero, Nathalie Streichenberger, Christophe Vial, Kristl G. Claeys, Chiara S. M. Straathof, An Goris, Christoph Freyer, Martin Lammens, Guillaume Bassez, Juha Kere, Paula Clemente, Thomas Sejersen, Bjarne Udd, Noemí Vidal, Isidre Ferrer, Lars Edström, Anna Wedell, Nigel G. Laing

    Diterbitkan 2019-03-01
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  10. 10
    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients oleh Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt-Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniene, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, Karin Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann-Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf H. Zetterström, Per Marits, Maria Johansson Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

    Diterbitkan 2021-03-01
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