Full Text Journal Articles by
Author Georg F Hoffmann

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The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.

Franziska Rillig, Annette Grüters, Tobias Bäumer, Georg F Hoffmann, Daniela Choukair, Reinhard Berner, Min Ae Lee-Kirsch, Martin Mücke, Corinna Grasemann, Annekatrin Ripke, Lena Zeltner, Gabriele Müller, Monika Glauch, Holm Graessner, Fabian Hauck, Christoph Klein, Markus M Nöthen, Olaf Riess, Stefan Mundlos, Thomas Meitinger, Tobias Kurt, Kerstin L Wainwright, Jochen Schmitt, Christoph Schramm, Heiko Krude,

<h4>Background</h4>Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2022, (Forthcoming):arztebl.m2022.0219]

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Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Julian Schröter, Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F Hoffmann, Steffen Syrbe, Sabine Jung-Klawitter,

Variants in different neuronal tubulin isotypes cause severe neurodevelopmental disorders with cerebral malformations accompanied by developmental delay, motor impairment, and epilepsy, known as tubulinopathies. Induced pluripotent stem cells were generated from peripheral blood mononuclear cells from a female subject carrying the heterozygous de novo variant c.[521C > T] (p.[Ala174Val]) in the TUBA1A ... Read more >>

Stem Cell Res (Stem cell research)
[2022, 62:102818]

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