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International Survey on Phenylketonuria Newborn Screening Trampuz, Domen; Schielen, Peter C. J. I.; Zetterstrom, Rolf H.; Scarpa, Maurizio; Feillet, Francois; Kozich, Viktor; Tangeraas, Trine; Torkar, Ana Drole; Mlinaric, Matej; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Battelino, Tadej; ISNS Study Grp PKU, Francjan J.; van Spronsen, Francjan J.; Bonham, James R.; Groselj, Urh 分享 收藏
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Newborn Screening in a Pandemic-Lessons Learned Mlinaric, Matej; Bonham, James R.; Kozich, Viktor; Koelker, 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.; Zetterstrom, Rolf H.; Groselj, Urh 分享 收藏
Towards Achieving Equity and Innovation in Newborn Screening across Europe Sikonja, Jaka; Groselj, Urh; Scarpa, Maurizio; la Marca, Giancarlo; Cheillan, David; Koelker, Stefan; Zetterstrom, Rolf H.; Kozich, 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. 分享 收藏
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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.; Thorn, Karolina; Lindgren, Susanne; Gudmundsdottir, Judith; Lundberg, Vanja; Degerman, Sofie; Zetterstrom, Rolf H.; Borte, Stephan; Hammarstrom, Lennart; Telemo, Esbjorn; Hultdin, Magnus; van der Burg, Mirjam; Fasth, Anders; Oskarsdottir, Solveig; Ekwall, Olov 分享 收藏
First Year of TREC-Based National SCID Screening in Sweden 瑞典基于TREC的国家SCID筛查的第一年 Gongrich, Christina; Ekwall, Olov; Sundin, Mikael; Brodszki, Nicholas; Fasth, Anders; Marits, Per; Dysting, Sam; Jonsson, Susanne; Barbaro, Michela; Wedell, Anna; von Dobeln, Ulrika; Zetterstrom, Rolf H. 分享 收藏
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools Rowe, Alexander D.; Stoway, Stephanie D.; Ahlman, Henrik; Arora, Vaneet; Caggana, Michele; Fornari, Anna; Hagar, Arthur; Hall, Patricia L.; Marquardt, Gregg C.; Miller, Bobby J.; Nixon, Christopher; Norgan, Andrew P.; Orsini, Joseph J.; Pettersen, Rolf D.; Piazza, Amy L.; Schubauer, Neil R.; Smith, Amy C.; Tang, Hao; Tavakoli, Norma P.; Wei, Sainan; Zetterstrom, Rolf H.; Currier, Robert J.; Morkrid, Lars; Rinaldo, Piero 分享 收藏
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients 将全基因组测序整合到医疗环境中: 3219罕见病患者多个临床实体的高诊断率 Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Mans; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Bjorck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjo, Anna; Hellstrom-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjold, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stodberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Hakan; Tohonen, Virpi; von Dobeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikstrom, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterstrom, Rolf H.; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna 分享 收藏
Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 Loeber, J. Gerard; Platis, Dimitris; Zetterstroem, Rolf H.; Almashanu, Shlomo; Boemer, Francois; Bonham, James R.; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Dimitrov, Dobry; Fingerhut, Ralph; Franzson, Leifur; Groselj, Urh; Hougaard, David; Knapkova, Maria; Kocova, Mirjana; Kotori, Vjosa; Kozich, Viktor; Kremezna, Anastasiia; Kurkijaervi, Riikka; La Marca, Giancarlo; Mikelsaar, Ruth; Milenkovic, Tatjana; Mitkin, Vyacheslav; Moldovanu, Florentina; Ceglarek, Uta; O'Grady, Loretta; Oltarzewski, Mariusz; Pettersen, Rolf D.; Ramadza, Danijela; Salimbayeva, Damilya; Samardzic, Mira; Shamsiddinova, Markhabo; Songailiene, Jurgita; Szatmari, Ildiko; Tabatadze, Nazi; Tezel, Basak; Toromanovic, Alma; Tovmasyan, Irina; Usurelu, Natalia; Vevere, Parsla; Vilarinho, Laura; Vogazianos, Marios; Yahyaoui, Raquel; Zeyda, Maximilian; Schielen, Peter C. J., I 分享 收藏
Regulatory landscape of providing information on newborn screening to parents across Europe Frankova, Vera; Driscoll, Riona O.; Jansen, Marleen E.; Loeber, J. Gerard; Kozich, Viktor; Bonham, James; Borde, Patricia; Brincat, Ian; Cheillan, David; Dekkers, Eugenie; Fingerhut, Ralph; Kus, Iva Bilandzija; Girginoudis, Panagiotis; Groselj, Urh; Hougaard, David; Knapkova, Maria; 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; Zetterstrom, Rolf H.; Zeyda, Maximilian 分享 收藏
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses Tangeraas, Trine; Saeves, Ingjerd; Klingenberg, Claus; Jorgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnporunn; Hansen, Eirik Vangsoy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T.; Sagredo, Carlos; Olsen, Oyvind E.; Berge, Mona C.; Tromborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sorgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Lovoll, Siv M.; Klovstad Olavsen, Mette R.; Navarrete, Dionne; Gaup, Hege J.; Lilje, Rina; Zetterstrom, Rolf H.; Stray-Pedersen, Asbjorg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D.; Pettersen, Rolf D. 分享 收藏
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