Kết quả tìm kiếm - Berit Woldseth
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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform Bằng Tuva Barøy, Janet Koster, Petter Strømme, Merel S. Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John H. Walter, Nicholas Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J. A. Wanders, Hans R. Waterham, Eirik Frengen
Được phát hành 2015Artigo -
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses Bằng Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, Jens Veilemand Jørgensen, Erle Kristensen, Gunnþórunn Gunnarsdottir, Eirik Vangsøy Hansen, Janne Strand, Emma Lundman, Sacha Ferdinandusse, Cathrin Lytomt Salvador, Berit Woldseth, Yngve Thomas Bliksrud, Carlos Sagredo, Øyvind Olsen, Mona C. Berge, Anette Kjoshagen Trømborg, Anders Ziegler, Jin Hui Zhang, Linda Karlsen Sørgjerd, Mari Ytre‐Arne, Silje Hogner, Siv M. Løvoll, Mette R. Kløvstad Olavsen, Dionne Navarrete, H.J. Gaup, R. Lilje, Rolf Zetterström, Asbjørg Stray‐Pedersen, Terje Rootwelt, Piero Rinaldo, Alexander D. Rowe, Rolf D. Pettersen
Được phát hành 2020Artigo
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Các môn học liên quan
Biology
Genetics
Internal medicine
Medicine
Alternative medicine
Atorvastatin
Bioinformatics
Chemistry
Chondrodysplasia punctata
Chromatography
Clinical trial
Coenzyme Q10
Crossover study
Dried blood
Exon
Frameshift mutation
Gastroenterology
Gene
Gene isoform
Genetic testing
Inborn error of metabolism
Incidence (geometry)
Materials science
Membrane
Metallurgy
Mutation
Myopathy
Newborn screening
Optics
Pathology