Hasil Pencarian - Anna Wedell

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  1. 1
    Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

    Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis oleh Michela Barbaro, Jackie Cook, Kristina Lagerstedt-Robinson, Anna Wedell

    Diterbitkan 2012-01-01
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  2. 2
    <i>MCEE</i> Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

    <i>MCEE</i> Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid oleh Mattias Andréasson, Rolf H. Zetterström, Ulrika von Döbeln, Anna Wedell, Per Svenningsson

    Diterbitkan 2019-05-01
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  3. 3
    Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies

    Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathi... oleh Olivia J. Henry, Tommy Stödberg, Sofia Båtelson, Chiara Rasi, Henrik Stranneheim, Anna Wedell

    Diterbitkan 2023-07-01
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  4. 4
    Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

    Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro oleh Javier Calvo-Garrido, Dania Winn, Camilla Maffezzini, Anna Wedell, Christoph Freyer, Anna Falk, Anna Wredenberg

    Diterbitkan 2021-06-01
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  5. 5
    Loqusdb: added value of an observations database of local genomic variation

    Loqusdb: added value of an observations database of local genomic variation oleh Måns Magnusson, Jesper Eisfeldt, Daniel Nilsson, Adam Rosenbaum, Valtteri Wirta, Anna Lindstrand, Anna Wedell, Henrik Stranneheim

    Diterbitkan 2020-07-01
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  6. 6
    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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  7. 7
    Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.

    Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation. oleh Ana Bratic, Paula Clemente, Javier Calvo-Garrido, Camilla Maffezzini, Andrea Felser, Rolf Wibom, Anna Wedell, Christoph Freyer, Anna Wredenberg

    Diterbitkan 2016-05-01
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  8. 8
    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy

    A Missense Variant in <i>PDK1</i> Associated with Severe Neurodevelopmental Delay and Epilepsy oleh Raquel Vaz, Josephine Wincent, Najla Elfissi, Kristina Rosengren Forsblad, Maria Pettersson, Karin Naess, Anna Wedell, Anna Wredenberg, Anna Lindstrand, Sofia Ygberg

    Diterbitkan 2022-12-01
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  9. 9
    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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  10. 10
    RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

    RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis oleh Uwe Richter, Molly E. Evans, Wesley C. Clark, Paula Marttinen, Eric A. Shoubridge, Anu Suomalainen, Anna Wredenberg, Anna Wedell, Tao Pan, Brendan J. Battersby

    Diterbitkan 2018-09-01
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  11. 11
    Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

    Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene oleh Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg

    Diterbitkan 2019-11-01
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  12. 12
    FBXL4 deficiency increases mitochondrial removal by autophagy

    FBXL4 deficiency increases mitochondrial removal by autophagy oleh David Alsina, Oleksandr Lytovchenko, Aleksandra Schab, Ilian Atanassov, Florian A Schober, Min Jiang, Camilla Koolmeister, Anna Wedell, Robert W Taylor, Anna Wredenberg, Nils‐Göran Larsson

    Diterbitkan 2020-07-01
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  13. 13
    First Year of TREC-Based National SCID Screening in Sweden

    First Year of TREC-Based National SCID Screening in Sweden oleh Christina Göngrich, Olov Ekwall, Mikael Sundin, Nicholas Brodszki, Anders Fasth, Per Marits, Sam Dysting, Susanne Jonsson, Michela Barbaro, Anna Wedell, Ulrika von Döbeln, Rolf H. Zetterström

    Diterbitkan 2021-08-01
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  14. 14
    Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

    Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy oleh Camilla Maffezzini, Isabelle Laine, Cristina Dallabona, Paula Clemente, Javier Calvo‐Garrido, Rolf Wibom, Karin Naess, Michela Barbaro, Anna Falk, Claudia Donnini, Christoph Freyer, Anna Wredenberg, Anna Wedell

    Diterbitkan 2019-06-01
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  15. 15
    Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.

    Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo. oleh Aleksandra Pajak, Isabelle Laine, Paula Clemente, Najla El-Fissi, Florian A Schober, Camilla Maffezzini, Javier Calvo-Garrido, Rolf Wibom, Roberta Filograna, Ashish Dhir, Anna Wedell, Christoph Freyer, Anna Wredenberg

    Diterbitkan 2019-07-01
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  16. 16
    SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

    SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation oleh Javier Calvo-Garrido, Camilla Maffezzini, Florian A. Schober, Paula Clemente, Elias Uhlin, Malin Kele, Henrik Stranneheim, Nicole Lesko, Helene Bruhn, Per Svenningsson, Anna Falk, Anna Wedell, Christoph Freyer, Anna Wredenberg

    Diterbitkan 2019-04-01
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  17. 17
    Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

    Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model oleh Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Gisselsson Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik A. Eklund, Vineta Fellman

    Diterbitkan 2017-04-01
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  18. 18
    PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

    PARKIN is not required to sustain OXPHOS function in adult mammalian tissues oleh Roberta Filograna, Jule Gerlach, Hae-Na Choi, Giovanni Rigoni, Michela Barbaro, Mikael Oscarson, Seungmin Lee, Katarina Tiklova, Markus Ringnér, Camilla Koolmeister, Rolf Wibom, Sara Riggare, Inger Nennesmo, Thomas Perlmann, Anna Wredenberg, Anna Wedell, Elisa Motori, Per Svenningsson, Nils-Göran Larsson

    Diterbitkan 2024-04-01
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  19. 19
    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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  20. 20
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... oleh Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

    Diterbitkan 2019-11-01
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