Resultats de la cerca - Stranneheim, Henrik

Stepping stones in DNA sequencing per Stranneheim, Henrik, Lundeberg, Joakim

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Design and assessment of binary DNA for nanopore sequencing per Akan, Pelin, Stranneheim, Henrik, Lexow, Preben, Lundeberg, Joakim

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Scalable Transcriptome Preparation for Massive Parallel Sequencing per Stranneheim, Henrik, Werne, Beata, Sherwood, Ellen, Lundeberg, Joakim

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A comparison between protein profiles of B cell subpopulations and mantle cell lymphoma cells per Stranneheim, Henrik, Orre, Lukas M, Lehtiö, Janne, Flygare, Jenny

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Increased Throughput by Parallelization of Library Preparation for Massive Sequencing per Lundin, Sverker, Stranneheim, Henrik, Pettersson, Erik, Klevebring, Daniel, Lundeberg, Joakim

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Classification of DNA sequences using Bloom filters per Stranneheim, Henrik, Käller, Max, Allander, Tobias, Andersson, Björn, Arvestad, Lars, Lundeberg, Joakim

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Inheritance of Acquired Behaviour Adaptations and Brain Gene Expression in Chickens per Nätt, Daniel, Lindqvist, Niclas, Stranneheim, Henrik, Lundeberg, Joakim, Torjesen, Peter A., Jensen, Per

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Correction: Inheritance of Acquired Behaviour Adaptations and Brain Gene Expression in Chickens per Nätt, Daniel, Lindqvist, Niclas, Stranneheim, Henrik, Lundeberg, Joakim, Torjesen, Peter A., Jensen, Per

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Gene Expression Profiles in Paired Gingival Biopsies from Periodontitis-Affected and Healthy Tissues Revealed by Massively Parallel Sequencing per Davanian, Haleh, Stranneheim, Henrik, Båge, Tove, Lagervall, Maria, Jansson, Leif, Lundeberg, Joakim, Yucel-Lindberg, Tülay

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Comparison of total and cytoplasmic mRNA reveals global regulation by nuclear retention and miRNAs per Solnestam, Beata Werne, Stranneheim, Henrik, Hällman, Jimmie, Käller, Max, Lundberg, Emma, Lundeberg, Joakim, Akan, Pelin

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SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia per Stödberg, Tommy, Magnusson, Måns, Lesko, Nicole, Wredenberg, Anna, Martin Munoz, Daniel, Stranneheim, Henrik, Wedell, Anna

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

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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study per Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna

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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network per Rasi, Chiara, Nilsson, Daniel, Magnusson, Måns, Lesko, Nicole, Lagerstedt‐Robinson, Kristina, Wedell, Anna, Lindstrand, Anna, Wirta, Valtteri, Stranneheim, Henrik

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Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy per Bruhn, Helene, Samuelsson, Kristin, Schober, Florian A., Engvall, Martin, Lesko, Nicole, Wibom, Rolf, Nennesmo, Inger, Calvo-Garrido, Javier, Press, Rayomand, Stranneheim, Henrik, Freyer, Christoph, Wedell, Anna, Wredenberg, Anna

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Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations per Paucar, Martin, Pajak, Aleksandra, Freyer, Christoph, Bergendal, Åsa, Döry, Margit, Laffita-Mesa, José Miguel, Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Savitcheva, Irina, Walker, Ruth H., Wedell, Anna, Wredenberg, Anna, Svenningsson, Per

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

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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism per Stranneheim, Henrik, Engvall, Martin, Naess, Karin, Lesko, Nicole, Larsson, Pontus, Dahlberg, Mats, Andeer, Robin, Wredenberg, Anna, Freyer, Chris, Barbaro, Michela, Bruhn, Helene, Emahazion, Tesfail, Magnusson, Måns, Wibom, Rolf, Zetterström, Rolf H, Wirta, Valtteri, von Döbeln, Ulrika, Wedell, Anna

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

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

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