apl. Prof. Dr. Christian Thiel

Medizinische Fakultät

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019) Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al. Journal article Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy (2019) Borggraefe I, Tacke M, Gerstl L, Leiz S, Coras R, Blümcke I, Giese A, et al. Journal article De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder (2019) Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, et al. Journal article PEDIA: prioritization of exome data by image analysis (2019) Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, et al. Journal article Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature (2019) Hauer N, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, et al. Journal article TRIM28 haploinsufficiency predisposes to Wilms tumor (2019) Diets IJ, Hoyer J, Ekici AB, Popp B, Hoogerbrugge N, van Reijmersdal SV, Bhaskaran R, et al. Journal article Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018) Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al. Journal article Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1-Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency (2018) Montalbano A, Juergensen L, Fukami M, Thiel C, Hauer N, Fricke-Otto S, Binder G, et al. Conference contribution A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings (2018) Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, Thiel C, et al. Journal article The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 (2018) Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel C, Sticht H, Berghoff M, et al. Journal article