Resultados da busca - Wedell, Anna

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

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Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias por Beleza-Meireles, Ana, Barbaro, Michela, Wedell, Anna, Töhönen, Virpi, Nordenskjöld, Agneta

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

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Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia por Falhammar, Henrik, Nyström, Helena Filipsson, Ekström, Urban, Granberg, Seth, Wedell, Anna, Thorén, Marja

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SUV3 helicase is required for correct processing of mitochondrial transcripts por Clemente, Paula, Pajak, Aleksandra, Laine, Isabelle, Wibom, Rolf, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna

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The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965–2014 por Ohlsson, Annika, Bruhn, Helene, Nordenström, Anna, Zetterström, Rolf H., Wedell, Anna, von Döbeln, Ulrika

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

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

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Loqusdb: added value of an observations database of local genomic variation por 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 por Stödberg, Tommy, Tomson, Torbjörn, Barbaro, Michela, Stranneheim, Henrik, Anderlid, Britt‐Marie, Carlsson, Sofia, Åmark, Per, Wedell, Anna

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Normal Sexual Development and Fertility in testatin Knockout Mice por Töhönen, Virpi, Frygelius, Jessica, Mohammadieh, Majid, Kvist, Ulrik, Pelliniemi, Lauri J., O'Brien, Kevin, Nordqvist, Katarina, Wedell, Anna

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

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Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits por Schober, Florian A., Atanassov, Ilian, Moore, David, Calvo-Garrido, Javier, Moedas, Marco F., Wedell, Anna, Freyer, Christoph, Wredenberg, Anna

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

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Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA por Barbaro, Michela, Balsamo, Antonio, Anderlid, Britt Marie, Myhre, Anne Grethe, Gennari, Monia, Nicoletti, Annalisa, Pittalis, Maria Carla, Oscarson, Mikael, Wedell, Anna

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

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

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

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

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

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