apl. Prof. Dr. Christian Thiel

Medizinische Fakultät

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu (2018) Kraus C, Uebe S, Thiel C, Ekici AB, Reis A, Zweier C Journal article Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria (2018) Hoyer J, Vasileiou G, Uebe S, Wunderle M, Kraus C, Fasching P, Thiel C, et al. Journal article Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome (2018) Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel C, Reis A, Zweier C Journal article Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature (2018) Hauer N, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, et al. Journal article Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature (2018) Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Roeth R, Weiss B, et al. Journal article Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis (2018) Falk N, Keßler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, et al. Journal article Ephedrine and 3,4 diaminopyridine responsive myasthenic syndrome in plectin-related epidermolysis bullosa simplex with muscular dystrophy (2017) Argente-Escrig H, Gomez NM, Gomez L, Türk M, Thiel C, Schröder R, Vilchez JJ Conference contribution Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders (2017) Reuter M, Tawamie H, Buchert R, Gebril OH, Froukh T, Thiel C, Uebe S, et al. Journal article Exome Pool-Seq in neurodevelopmental disorders (2017) Popp B, Ekici AB, Thiel C, Hoyer J, Wiesener A, Kraus C, Reis A, Zweier C Journal article Genetic analysis of VCP and WASH complex genes in a German cohort of sporadic ALS-FTD patients (2017) Türk M, Schröder R, Khuller K, Hofmann A, Berwanger C, Ludolph AC, Dekomien G, et al. Journal article