Christiane Zweier

Medizinische Fakultät

De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019) Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, 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 Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila (2019) Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A Journal article, Review article Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement (2019) Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, et al. Journal article, Review article TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma (2019) Hellwig M, Lauffer MC, Bockmayr M, Spohn M, Merk DJ, Harrison L, Ahlfeld J, et al. Journal article Report 2018 of the Syndrome Day Committee (2019) Zweier C Journal article 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 De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy (2019) Nabais Sá MJ, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al. Journal article