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aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H. Schröter J, et al. Among authors: hoffmann gf. Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36789265 Free PMC article.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T. Reischl-Hajiabadi AT, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31. Mol Genet Metab. 2024. PMID: 38302374 Free article.
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?
Hoefig CS, Renko K, Piehl S, Scanlan TS, Bertoldi M, Opladen T, Hoffmann GF, Klein J, Blankenstein O, Schweizer U, Köhrle J. Hoefig CS, et al. Among authors: hoffmann gf. Mol Cell Endocrinol. 2012 Feb 26;349(2):195-201. doi: 10.1016/j.mce.2011.10.024. Epub 2011 Oct 28. Mol Cell Endocrinol. 2012. PMID: 22061622
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.
Zaunseder E, Teinert J, Boy N, Garbade SF, Haupt S, Feyh P, Hoffmann GF, Kölker S, Mütze U, Heuveline V. Zaunseder E, et al. Among authors: hoffmann gf. Int J Neonatal Screen. 2024 Dec 21;10(4):83. doi: 10.3390/ijns10040083. Int J Neonatal Screen. 2024. PMID: 39728403 Free PMC article.
Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.
Stich M, Magalhães VG, Bürger F, Garbade SF, Jeltsch K, Mohr K, Haddad A, Elling R, Lang P, Rabsteyn A, Jacobsen EM, Bode SFN, Müller B, Kräusslich HG, Hoffmann GF, Okun JG, Bartenschlager R, Binder M, Janda A, Renk H, Tönshoff B. Stich M, et al. Among authors: hoffmann gf. J Med Virol. 2024 Dec;96(12):e70098. doi: 10.1002/jmv.70098. J Med Virol. 2024. PMID: 39624009 Free PMC article.
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: hoffmann gf. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
618 results