Rezultati - Zweier, Christiane

Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions od Zweier, Christiane, Sticht, Heinrich, Aydin-Yaylagül, Inci, Campbell, Christine E., Rauch, Anita

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Intellectual disability and autism spectrum disorders ‘on the fly’: insights from Drosophila od Coll-Tané, Mireia, Krebbers, Alina, Castells-Nobau, Anna, Zweier, Christiane, Schenck, Annette

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Loss of PHF6 leads to aberrant development of human neuron-like cells od Fliedner, Anna, Gregor, Anne, Ferrazzi, Fulvia, Ekici, Arif B., Sticht, Heinrich, Zweier, Christiane

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Exome Pool-Seq in neurodevelopmental disorders od Popp, Bernt, Ekici, Arif B., Thiel, Christian T., Hoyer, Juliane, Wiesener, Antje, Kraus, Cornelia, Reis, André, Zweier, Christiane

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A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis od AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.

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Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study od Kosztyła-Hojna, Bożena, Borys, Jan, Zdrojkowski, Maciej, Duchnowska, Emilia, Kraszewska, Anna, Wasilewska, Daria, Zweier, Christiane, Midro, Alina Teresa

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Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster od Straub, Jonas, Gregor, Anne, Sauerer, Tatjana, Fliedner, Anna, Distel, Laila, Suchy, Christine, Ekici, Arif B., Ferrazzi, Fulvia, Zweier, Christiane

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Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling od Vasileiou, Georgia, Ekici, Arif B., Uebe, Steffen, Zweier, Christiane, Hoyer, Juliane, Engels, Hartmut, Behrens, Jürgen, Reis, André, Hadjihannas, Michel V.

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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability od Popp, Bernt, Agaimy, Abbas, Kraus, Cornelia, Knaup, Karl X., Ekici, Arif B., Uebe, Steffen, Reis, André, Wiesener, Michael, Zweier, Christiane

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Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome od Rieder, Marina, Kreifels, Paul, Stuplich, Judith, Ziupa, David, Servatius, Helge, Nicolai, Luisa, Castiglione, Alessandro, Zweier, Christiane, Asatryan, Babken, Odening, Katja E.

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PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders od Bayat, Allan, Iqbal, Sumaiya, Borredy, Kim, Amiel, Jeanne, Zweier, Christiane, Barcia, Guilia, Kraus, Cornelia, Weyhreter, Heike, Bassuk, Alexander G., Chopra, Maya, Rubboli, Guido, Møller, Rikke S.

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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 o... od 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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Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator od Thiel, Christian T. , Horn, Denise , Zabel, Bernhard , Ekici, Arif B. , Salinas, Kelly , Gebhart, Erich , Rüschendorf, Franz , Sticht, Heinrich , Spranger, Jürgen , Müller, Dietmar , Zweier, Christiane , Schmitt, Mark E. , Reis, André , Rauch, Anita 

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Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development od Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris

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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability od Gregor, Anne, Oti, Martin, Kouwenhoven, Evelyn N., Hoyer, Juliane, Sticht, Heinrich, Ekici, Arif B., Kjaergaard, Susanne, Rauch, Anita, Stunnenberg, Hendrik G., Uebe, Steffen, Vasileiou, Georgia, Reis, André, Zhou, Huiqing, Zweier, Christiane

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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila od Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita

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Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination od Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy

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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome od van Rahden, Vanessa A, Rau, Isabella, Fuchs, Sigrid, Kosyna, Friederike K, de Almeida, Hiram Larangeira, Fryssira, Helen, Isidor, Bertrand, Jauch, Anna, Joubert, Madeleine, Lachmeijer, Augusta M A, Zweier, Christiane, Moog, Ute, Kutsche, Kerstin

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Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for... od Griffin, Helen R, Töpf, Ana, Glen, Elise, Zweier, Christiane, Stuart, A Graham, Parsons, Jonathan, Peart, Ian, Deanfield, John, O'Sullivan, John, Rauch, Anita, Scambler, Peter, Burn, John, Cordell, Heather J, Keavney, Bernard, Goodship, Judith A

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Zeb2 Recruits HDAC-NuRD to Inhibit Notch and Controls Schwann Cell Differentiation and Remyelination od Wu, Lai Man Natalie, Wang, Jincheng, Conidi, Andrea, Zhao, Chuntao, Wang, Haibo, Ford, Zachary, Zhang, Liguo, Zweier, Christiane, Ayee, Brian G., Maurel, Patrice, Zwijsen, An, Chan, Jonah R., Jankowski, Michael P., Huylebroeck, Danny, Lu, Q. Richard

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