Hutter, Anna-Marlen M.Sc.; Dr. rer. nat.Universität HeidelbergHeidelberg
Refine publication list
Year of publication
Type of Publication
Language
Co-author (Univ. of Heidelberg)
- Eils, Roland (1)
- Paramasivam, Nagarajan (1)
- Sinning, Irmgard (1)
- Strahl, Sabine (1)
- Hellwig, Andrea (1)
- Zielonka, Matthias (1)
- Jost, Markus (1)
- Guglielmi, Luca (1)
- Lüchtenborg, Christian (1)
- Geiger, Virginia (1)
- Beedgen, Lars (1)
- Hüllen, Andreas (1)
- Brügger, Britta (1)
- Okun, Jürgen G. (1)
- Carl, Matthias (1)
- Ziegler, Andreas (1)
- Staufner, Christian (1)
Co-author (external)
Publications in heiBIB 
- Hutter, Anna-Marlen: Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den "Congenital Disorders of Glycosylation" (CDG) / vorgelegt von Master of Science (M.Sc.) - Anna-Marlen Hutter ; Gutachter: Prof. Dr. Sabine Strahl [u… . -
Heidelberg, [2020?]. - X, 81, xliii Blätter : Illustrationen, Diagramme
- Hutter, Anna-Marlen: Biallelische Varianten in GZF1 und VPS45 verbinden das Larsen-Syndrom mit den "Congenital Disorders of Glycosylation" (CDG) / vorgelegt von Master of Science (M.Sc.) - Anna-Marlen Hutter ; Gutachter: Prof. Dr. Sabine Strahl [u… . -
Heidelberg, 20 Mai 2020. - 1 Online-Ressource (137 Seiten) : Illustrationen, Diagramme
DOI: 10.11588/heidok.00028327
- 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
- Altassan, Ruqaiah: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation : Diagnosis, treatment and follow up / Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet, Delphine Borgel, Sandra Brasi… , 11 February 2019. - 26 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 5-28
DOI: 10.1002/jimd.12024
- 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
