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발행년	- (예 : 2010-2015)

전체선택

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Academic Journal

Forny, Patrick; Plessl, Tanja; Frei, Caroline; Bürer, Celine; Froese, D. Sean; Baumgartner, Matthias R.

Human Genetics. July, 2022, Vol. 141 Issue 7, p1253, 15 p.

Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Academic Journal

Forny, Patrick; Bonilla, Ximena; Lamparter, David; Shao, Wenguang; Plessl, Tanja; Frei, Caroline; Bingisser, Anna; Goetze, Sandra; van Drogen, Audrey; Harshman, Keith; Pedrioli, Patrick G. A.; Howald, Cedric; Poms, Martin; Traversi, Florian; Bürer, Céline; Cherkaoui, Sarah; Morscher, Raphael J.; Simmons, Luke; Forny, Merima; Xenarios, Ioannis; Aebersold, Ruedi; Zamboni, Nicola; Rätsch, Gunnar; Dermitzakis, Emmanouil T.; Wollscheid, Bernd; Baumgartner, Matthias R.; Froese, D. Sean

Nature Metabolism. 5(1):80-95

Web of Science JCR 저널정보 Scopus Find it@PNU

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria

Academic Journal

Forny, Patrick; Plessl, Tanja; Frei, Caroline; Burer, Celine; Froese, D. Sean; Baumgartner, Matthias R.

HUMAN GENETICS; NOV 18 2021, 15p.

Full Text (Gale Academic Onefile) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Electronic Resource

Forny, Patrick; Bonilla, Ximena; Lamparter, David; Shao, Wenguang; Plessl, Tanja; Frei, Caroline; Bingisser, Anna; Goetze, Sandra; van Drogen, Audrey; Harshman, Keith; Pedrioli, Patrick G A; Howald, Cédric; Poms, Martin; Traversi, Florian; Cherkaoui, Sarah; Morscher, Raphael J; Simmons, Luke; Forny, Merima; Xenarios, Ioannis; Aebersold, Ruedi; Zamboni, Nicola; Raetsch, Gunnar; Dermitzakis, Emmanouil; Wollscheid, Bernd; Baumgartner, Matthias R; Froese, D Sean (2022). Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. medRxiv 22269972, Cold Spring Harbor Laboratory.

Open Access (OAIster)