Full Text Journal Articles by
Author Heiko Krude

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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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GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

Satoshi Narumi, Robert Opitz, Keisuke Nagasaki, Koji Muroya, Yumi Asakura, Masanori Adachi, Kiyomi Abe, Chiho Sugisawa, Peter Kühnen, Tomohiro Ishii, Markus M Nöthen, Heiko Krude, Tomonobu Hasegawa,

Congenital hypothyroidism due to thyroid dysgenesis (TD), presented as thyroid aplasia, hypoplasia or ectopia, is one of the most prevalent rare diseases with an isolated organ malformation. The pathogenesis of TD is largely unknown, although a genetic predisposition has been suggested. We performed a genome-wide association study (GWAS) with 142 ... Read more >>

Hum Mol Genet (Human molecular genetics)
[2022, :ddac093]

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