Christiane Zweier

Medizinische Fakultät

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice (2019) Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, et al. Journal article Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders (2019) Fenckova M, Blok LE, Asztalos L, Goodman DP, Cizek P, Singgih EL, Glennon JC, 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 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 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (2018) Blok LS, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, et al. Journal article Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care (2018) Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Journal article Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018) Johnston JJ, Van Der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, 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 De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018) Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, et al. Journal article