Prof. Dr. Christiane Zweier


Medizinische Fakultät

Publikationen (Download BibTeX)

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Jung, M., Häberle, B., Tschaikowsky, T., Wittmann, M.-T., Balta, E.-A., Stadler, V.-C.,... Lie, D.C. (2018). Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons. Molecular Autism , 9.
Johnston, J.J., Van Der Smagt, J.J., Rosenfeld, J.A., Pagnamenta, A.T., Alswaid, A., Baker, E.H.,... Biesecker, L.G. (2018). Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genetics in Medicine.
Graul-Neumann, L.M., Mensah, M.A., Klopocki, E., Uebe, S., Ekici, A.B., Thiel, C.T.,... Zweier, C. (2018). Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. European Journal of Medical Genetics, 61(7), 363-368.
Blok, L.S., Rousseau, J., Twist, J., Ehresmann, S., Takaku, M., Venselaar, H.,... Campeau, P.M. (2018). CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 9(1).
Hauer, N., Popp, B., Schoeller, E., Schuhmann, S., Heath, K.E., Hisado-Oliva, A.,... Thiel, C.T. (2018). Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature. Genetics in Medicine, 20(6), 630-638.
Gregor, A., Sadleir, L.G., Asadollahi, R., Azzarello-Burri, S., Battaglia, A., Ousager, L.B.,... Zweier, C. (2018). De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. American Journal of Human Genetics, 103(2), 305-316.
Kraus, C., Uebe, S., Thiel, C.T., Ekici, A.B., Reis, A., & Zweier, C. (2018). Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. American Journal of Medical Genetics Part A.
Straub, J., Konrad, E., Grüner, J., Toutain, A., Bok, L.A., Cho, M.T.,... Zweier, C. (2018). Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. American Journal of Human Genetics, 102(1), 44-57.
Ivanovski, I., Djuric, O., Caraffi, S.G., Santodirocco, D., Pollazzon, M., Rosato, S.,... Garavelli, L. (2018). Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genetics in Medicine, 20(9), 965-975.
Kasper, B., Dörfler, A., Di Donato, N., Kasper, E.M., Wieczorek, D., Hoyer, J., & Zweier, C. (2017). Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome. Epilepsy and Behavior, 69, 104-109.

Zuletzt aktualisiert 2018-09-01 um 01:00