Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen

por Brennenstuhl, Heiko, Schaaf, Christian P.
Publicado 2023

Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation: a cross-sectional analysis of the Emergency Events Database

por Brennenstuhl, Heiko, Will, Manuel, Ries, Elias, Mechler, Konstantin, Garbade, Sven, Ries, Markus
Publicado 2021

Succinic Semialdehyde Dehydrogenase Deficiency: An Update

por Didiasova, Miroslava, Banning, Antje, Brennenstuhl, Heiko, Jung-Klawitter, Sabine, Cinquemani, Claudio, Opladen, Thomas, Tikkanen, Ritva
Publicado 2020

Unmet Needs of Parents of Children with Urea Cycle Disorders

por Scharping, Mara, Brennenstuhl, Heiko, Garbade, Sven F., Wild, Beate, Posset, Roland, Zielonka, Matthias, Kölker, Stefan, Haun, Markus W., Opladen, Thomas
Publicado 2022

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1

por Brennenstuhl, Heiko, Didiasova, Miroslava, Assmann, Birgit, Bertoldi, Mariarita, Molla, Gianluca, Jung-Klawitter, Sabine, Kuseyri Hübschmann, Oya, Schröter, Julian, Opladen, Thomas, Tikkanen, Ritva
Publicado 2020

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

por Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Publicado 2023

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

por Döring, Jan H., Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A., Bast, Thomas, Dietel, Tobias, Korenke, G. Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S., Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F., Lemke, Johannes R., Syrbe, Steffen
Publicado 2021

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

por Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Publicado 2022