Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism
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
Published in BMC genomics (11.12.2014)
Published in BMC genomics (11.12.2014)
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Surge of immune cell formation at birth differs by mode of delivery and infant characteristics-A population-based cohort study
Schlinzig, Titus, Johansson, Stefan, Stephansson, Olof, Hammarström, Lennart, Zetterström, Rolf H, von Döbeln, Ulrika, Cnattingius, Sven, Norman, Mikael
Published in PloS one (14.09.2017)
Published in PloS one (14.09.2017)
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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Stranneheim, Henrik, Lagerstedt-Robinson, Kristina, Magnusson, Måns, Kvarnung, Malin, Nilsson, Daniel, Lesko, Nicole, Engvall, Martin, Anderlid, Britt-Marie, Arnell, Henrik, Johansson, Carolina Backman, Barbaro, Michela, Björck, Erik, Bruhn, Helene, Eisfeldt, Jesper, Freyer, Christoph, Grigelioniene, Giedre, Gustavsson, Peter, Hammarsjö, Anna, Hellström-Pigg, Maritta, Iwarsson, Erik, Jemt, Anders, Laaksonen, Mikael, Enoksson, Sara Lind, Malmgren, Helena, Naess, Karin, Nordenskjöld, Magnus, Oscarson, Mikael, Pettersson, Maria, Rasi, Chiara, Rosenbaum, Adam, Sahlin, Ellika, Sardh, Eliane, Stödberg, Tommy, Tesi, Bianca, Tham, Emma, Thonberg, Håkan, Töhönen, Virpi, von Döbeln, Ulrika, Vassiliou, Daphne, Vonlanthen, Sofie, Wikström, Ann-Charlotte, Wincent, Josephine, Winqvist, Ola, Wredenberg, Anna, Ygberg, Sofia, Zetterström, Rolf H, Marits, Per, Soller, Maria Johansson, Nordgren, Ann, Wirta, Valtteri, Lindstrand, Anna, Wedell, Anna
Published in Genome medicine (17.03.2021)
Published in Genome medicine (17.03.2021)
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Normal neonatal TREC and KREC levels in early onset juvenile idiopathic arthritis
Gudmundsdottir, Judith A., Thorgeirsdottir, Sigridur, Lundbäck, Veroniqa, Göngrich, Christina, Lingman Framme, Jenny, Kindgren, Erik, Rydenman, Karin, Ludviksson, Bjorn Runar, Bjarnadottir, Helga, Runarsdottir, Saga, Nilsson, Staffan, Zetterström, Rolf H., Ekwall, Olov, Lindgren, Susanne
Published in Clinical immunology (Orlando, Fla.) (01.04.2023)
Published in Clinical immunology (Orlando, Fla.) (01.04.2023)
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Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Framme, Jenny Lingman, Lundqvist, Christina, Lundell, Anna-Carin, van Schouwenburg, Pauline A., Lemarquis, Andri L., Thörn, Karolina, Lindgren, Susanne, Gudmundsdottir, Judith, Lundberg, Vanja, Degerman, Sofie, Zetterström, Rolf H., Borte, Stephan, Hammarström, Lennart, Telemo, Esbjörn, Hultdin, Magnus, van der Burg, Mirjam, Fasth, Anders, Oskarsdóttir, Sólveig, Ekwall, Olov
Published in Journal of clinical immunology (2022)
Published in Journal of clinical immunology (2022)
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Towards Achieving Equity and Innovation in Newborn Screening across Europe
Sikonja, Jaka, Groselj, Urh, Scarpa, Maurizio, la Marca, Giancarlo, Cheillan, David, Kölker, Stefan, Zetterström, Rolf H, Kožich, Viktor, Le Cam, Yann, Gumus, Gulcin, Bottarelli, Valentina, van der Burg, Mirjam, Dekkers, Eugenie, Battelino, Tadej, Prevot, Johan, Schielen, Peter C J I, Bonham, James R
Published in International journal of neonatal screening (06.05.2022)
Published in International journal of neonatal screening (06.05.2022)
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First Year of TREC-Based National SCID Screening in Sweden
Göngrich, Christina, Ekwall, Olov, Sundin, Mikael, Brodszki, Nicholas, Fasth, Anders, Marits, Per, Dysting, Sam, Jonsson, Susanne, Barbaro, Michela, Wedell, Anna, von Döbeln, Ulrika, Zetterström, Rolf H.
Published in International journal of neonatal screening (25.08.2021)
Published in International journal of neonatal screening (25.08.2021)
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Regulatory landscape of providing information on newborn screening to parents across Europe
Franková, Věra, Driscoll, Riona O, Jansen, Marleen E, Loeber, J Gerard, Kožich, Viktor, Bonham, James, Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Fingerhut, Ralph, Kuš, Iva Bilandžija, Girginoudis, Panagiotis, Groselj, Urh, Hougaard, David, Knapková, Mária, la Marca, Giancarlo, Malniece, Ieva, Nanu, Michaela Iuliana, Nennstiel, Uta, Olkhovych, Nataliia, Oltarzewski, Mariusz, Pettersen, Rolf D, Racz, Gabor, Reinson, Karit, Salimbayeva, Damilya, Songailiene, Jurgita, Vilarinho, Laura, Vogazianos, Marios, Zetterström, Rolf H, Zeyda, Maximilian
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Journal Article
Newborn Screening in a Pandemic-Lessons Learned
Mlinaric, Matej, Bonham, James R, Kožich, Viktor, Kölker, Stefan, Majek, Ondrej, Battelino, Tadej, Torkar, Ana Drole, Koracin, Vanesa, Perko, Dasa, Remec, Ziga Iztok, Lampret, Barbka Repic, Scarpa, Maurizio, Schielen, Peter C J I, Zetterström, Rolf H, Groselj, Urh
Published in International journal of neonatal screening (11.04.2023)
Published in International journal of neonatal screening (11.04.2023)
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