Author/Creator: Christ, Stine - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Christ, Stine

1. Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Issue 5 (4th September 2020)

Authors:: Kotzaeridou, Urania; Young‐Baird, Sara K.; Suckow, Vanessa; Thornburg, Alexis G.; Wagner, Matias; Harting, Inga; Christ, Stine; Strom, Tim; Dever, Thomas E.; Kalscheuer, Vera M.
Journal:: Clinical genetics
Issue:: Volume 98:Issue 5(2020)
Page Start:: 507
Record Type:: Journal Article
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2. Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform. Issue 4 (23rd January 2020)

Authors:: Klinke, Glynis; Richter, Sylvia; Monostori, Péter; Schmidt‐Mader, Brigitte; García‐Cazorla, Angels; Artuch, Rafael; Christ, Stine; Opladen, Thomas; Hoffmann, Georg F.; Blau, Nenad; Okun, Jürgen G.
Journal:: Journal of inherited metabolic disease
Issue:: Volume 43:Issue 4(2020)
Page Start:: 712
Record Type:: Journal Article
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3. The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine. Issue 4 (23rd June 2021)

Authors:: Brennenstuhl, Heiko; Christ, Stine; Kock, Vanessa
Journal:: Journal of inherited metabolic disease
Issue:: Volume 44:Issue 4(2021)
Page Start:: 789
Record Type:: Journal Article
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