Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks
Pehrsson, Minja, Heikkinen, Hanna, Wartiovaara-Kautto, Ulla, Mäntylahti, Sampo, Bäckström, Pia, Lassenius, Mariann I., Uusi-Rauva, Kristiina, Carpén, Olli, Elomaa, Kaisa
Published in Molecular genetics and metabolism reports (01.12.2022)
Published in Molecular genetics and metabolism reports (01.12.2022)
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Journal Article
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies
Widemann, Brigitte C., Acosta, Maria T., Ammoun, Sylvia, Belzberg, Allan J., Bernards, Andre, Blakeley, Jaishri, Bretscher, Antony, Cichowski, Karen, Clapp, D. Wade, Dombi, Eva, Evans, Gareth D., Ferner, Rosalie, Fernandez-Valle, Cristina, Fisher, Michael J., Giovannini, Marco, Gutmann, David H., Hanemann, C. Oliver, Hennigan, Robert, Huson, Susan, Ingram, David, Kissil, Joe, Korf, Bruce R., Legius, Eric, Packer, Roger J., McClatchey, Andrea I, McCormick, Frank, North, Kathryn, Pehrsson, Minja, Plotkin, Scott R., Ramesh, Vijaya, Ratner, Nancy, Schirmer, Susann, Sherman, Larry, Schorry, Elizabeth, Stevenson, David, Stewart, Douglas R., Ullrich, Nicole, Bakker, Annette C., Morrison, Helen
Published in American journal of medical genetics. Part A (01.03.2014)
Published in American journal of medical genetics. Part A (01.03.2014)
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Conference Proceeding