Suchergebnisse - Zweier, Christiane

Das Mowat-Wilson Syndrom: klinische und genetische Definition einer neuen Krankheitsentität

von Zweier, Christiane 1978-

Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster

von Straub, Jonas, Gregor, Anne, Sauerer, Tatjana, Fliedner, Anna, Distel, Laila, Suchy, Christine, Ekici, Arif B., Ferrazzi, Fulvia, Zweier, Christiane

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A new face of Borjeson–Forssman–Lehmann syndrome?: De novo mutations in PHF6 in seven females with a distinct phenotype

von Zweier, Christiane, Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita, Reis, Andre, Wollnik, Bernd, Zeschnigk, Michael, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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Loss of PHF6 leads to aberrant development of human neuron-like cells

von Fliedner, Anna, Gregor, Anne, Ferrazzi, Fulvia, Ekici, Arif B., Sticht, Heinrich, Zweier, Christiane

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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

von Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane

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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

von Jung, Matthias, Häberle, Benjamin M., Tschaikowsky, Tristan, Wittmann, Marie-Theres, Balta, Elli-Anna, Stadler, Vivien-Charlott, Zweier, Christiane, Dörfler, Arnd, Gloeckner, Christian Johannes, Lie, D. Chichung

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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

von Smogavec, Mateja, Cleall, Alison, Hoyer, Juliane, Lederer, Damien, Nassogne, Marie-Cécile, Palmer, Elizabeth E., Deprez, Marie, Benoit, Valérie, Maystadt, Isabelle, Noakes, Charlotte, Leal, Alejandro, Shaw, Marie, Gecz, Jozef, Raymond, Lucy, Reis, André, Shears, Deborah, Brockmann, Knut, Zweier, Christiane

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Severe intellectual disability associated with recessive defects in CNTNAP2 and NRXN1

von Zweier, Christiane 1978-

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Das Mowat-Wilson Syndrom: klinische und genetische Definition einer neuen Krankheitsentität

von Zweier, Christiane 1978-