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apl. Prof. Dr. Christian Thiel
List of publications:
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Medizinische Fakultät
Publications
(49)
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Journal article
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Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature (2017)
Hauer N, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, et al.
Journal article
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 (2016)
Popp B, Trollmann R, Büttner C, Caliebe A, Thiel C, Hüffmeier U, Reis A, Zweier C
Journal article
Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy (2016)
Winter L, Türk M, Harter PN, Mittelbronn M, Kornblum C, Norwood F, Jungbluth H, et al.
Journal article
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects (2015)
Keßler K, Wunderlich I, Uebe S, Falk N, Gießl A, Brandstätter JH, Popp B, et al.
Journal article
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations (2015)
Kraus C, Rau T, Lux P, Erlenbach-Wuensch K, Loehr S, Krumbiegel M, Thiel C, et al.
Journal article
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation (2015)
Zahnleiter D, Hauer N, Keßler K, Uebe S, Sugano Y, Neuhauss SCF, Gießl A, et al.
Journal article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015)
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TMT, Racher H, Phelps IG, et al.
Journal article
The clinical significance of small copy number variants in neurodevelopmental disorders (2014)
Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, et al.
Journal article
Biallelic SEMA3A defects cause a novel type of syndromic short stature (2013)
Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, et al.
Journal article
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