Prof. Dr. André Wiesmann da Silva Reis

Lehrstuhl für Humangenetik

Association analyses of functional NCF1 variants in psoriatic arthritis and psoriasis vulgaris (2019) Hüffmeier U, Löhr S, Ekici AB, Uebe S, Koehm M, Behrens F, Boehm B, et al. Conference contribution Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations (2019) Cameron JM, Maljevic S, Nair U, Aung YH, Cogne B, Bezieau S, Blair E, et al. Journal article Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability (2019) Popp B, Agaimy A, Kraus C, Knaup K, Ekici AB, Uebe S, Reis A, et al. Journal article Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants (2019) Löhr S, Ekici AB, Uebe S, Büttner C, Köhm M, Behrens F, Böhm B, et al. Journal article 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 Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma (2019) Siggs OM, Souzeau E, Pasutto F, Dubowsky A, Smith JEH, Taranath D, Pater J, et al. Journal article 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 Tyrosinase is a novel endogenous inhibitor of lymphangiogenesis (2019) Clahsen T, Büttner C, Regenfuss B, Gabriel T, Bock F, Reis A, Cursiefen C Conference contribution Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018) (2019) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article, Erratum