Breuer, Maximilian Dr. rer. nat.Universität HeidelbergHeidelberg
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- Thiemann, Kai Christian (2)
- Guglielmi, Luca (2)
- Dimitrov, Bianca (2)
- Peters, Verena (2)
- Hutter, Anna-Marlen (2)
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Co-author (external)
Publications in heiBIB 
- Himmelreich, Nastassja: Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus / Nastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, Matthias Zielonka, Anna-Marlen Hutter, Lars… , 08 May 2019. - 14 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 7, Seite 938-951
DOI: 10.1002/humu.23764
- Breuer, Maximilian: QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis / Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, Verena Hemberger, Stefan Kölker, Jürgen G. Oku… , April 17, 2019. - 19 S.
In: PLOS ONE, ISSN 1932-6203. 14(2019,4) Artikel-Nummer e0215162, 19 Seiten
DOI: 10.1371/journal.pone.0215162
- Dimitrov, Bianca: Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG / Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G.… , 2018. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 3, Seite 364-374
DOI: 10.1016/j.ymgme.2018.01.008
- Zielonka, Matthias: Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase / Matthias Zielonka, Maximilian Breuer, Jürgen Günther Okun, Matthias Carl, Georg Friedrich Hoffmann, … , September 10, 2018. - 24 S.
In: PLOS ONE, ISSN 1932-6203. 13(2018), 9, Artikel-ID e0203707
DOI: 10.1371/journal.pone.0203707
- Breuer, Maximilian: Characterizing the function and role of three dihydropteridine reductase homologs Qdpra, Qdprb1 and Qdprb2 in the embryonic development of Danio rerio / presented by Maximilian Breuer, M.Sc., born in Bonn ; 1st feferee: Prof. Dr. Andreas Draguhn [und ei… . -
Heidelberg, 03 Mai 2018. - 1 Online-Ressource (127 Seiten)
DOI: 10.11588/heidok.00024357
- Kopajtich, Robert: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy / Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely… , 14 July 2016. - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 2, Seite 414-422
DOI: 10.1016/j.ajhg.2016.05.027
