apl. Prof. Dr. Christian Thiel



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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

From
To

Abstract

Journal

A novel splice variant expands the LAMC3-associated cortical phenotype to frontal only polymicrogyria and adult-onset epilepsy (2020) Kasper B, Kraus C, Schwarz M, Rösch J, Thiel C, Reis A, Zweier C Journal article Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis (2020) Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, et al. Journal article Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: A case report (2019) Türk M, Nagel AM, Roemer F, Schlötzer-Schrehardt U, Thiel C, Winterholler M, Schröder R Journal article Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? (2019) Vasileiou G, Hoyer J, Thiel C, Schaefer JT, Zapke M, Krumbiegel M, Kraus C, et al. Journal article Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019) Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al. Conference contribution Exploring the phenotypical spectrum of BRD4 defects (2019) Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al. Conference contribution Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Conference contribution Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019) Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al. Conference contribution Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2019) Rappold GA, Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, et al. Conference contribution Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction (2019) Tiosano D, Baris HN, Chen A, Hitzert MM, Schüler M, Gulluni F, Wiesener A, et al. Journal article
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