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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
Journal article
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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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