Zoekresultaten - Zweier, Christiane

Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions door 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 door 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 door Fliedner, Anna, Gregor, Anne, Ferrazzi, Fulvia, Ekici, Arif B., Sticht, Heinrich, Zweier, Christiane

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Exome Pool-Seq in neurodevelopmental disorders door 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 door 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 door 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 door 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 door 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 door 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 door 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 door 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... door 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 door 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 door 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 door 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 door 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 door 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 door 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... door 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 door 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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