Resultados da busca - Gregor, Anne
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Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster por Straub, Jonas, Gregor, Anne, Sauerer, Tatjana, Fliedner, Anna, Distel, Laila, Suchy, Christine, Ekici, Arif B., Ferrazzi, Fulvia, Zweier, Christiane
Publicado em 2020Texto -
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Overexpression of ankyrin1 promotes pancreatic cancer cell growth por Omura, Noriyuki, Mizuma, Masamichi, MacGregor, Anne, Hong, Seung-Mo, Ayars, Michael, Almario, Jose Alejandro, Borges, Michael, Kanda, Mitsuro, Li, Ang, Vincent, Audrey, Maitra, Anirban, Goggins, Michael
Publicado em 2016Texto -
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Imaging patients with suspected brain tumour: guidance for primary care por Kernick, David P, Ahmed, Fayyaz, Bahra, Anish, Dowson, Andrew, Elrington, Giles, Fontebasso, Manuela, Giffin, Nicola J, Lipscombe, Sue, MacGregor, Anne, Peatfield, Richard, Weatherby, Stuart, Whitmarsh, Tom, Goadsby, Peter J
Publicado em 2008Texto -
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De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability por 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
Publicado em 2013Texto -
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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance por Rapaport, Franck, Boisson, Bertrand, Gregor, Anne, Béziat, Vivien, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, Jouanguy, Emmanuelle, Puel, Anne, Rosain, Jérémie, Zhang, Qian, Zhang, Shen-Ying, Gleeson, Joseph G., Quintana-Murci, Lluis, Casanova, Jean-Laurent, Abel, Laurent, Patin, Etienne
Publicado em 2021Texto -
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Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia por Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S., Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y., Appelhof, Bart, Roosing, Susanne, Musaev, Damir, Rosti, Basak, Wirth, Sara, Stanley, Valentina, Baas, Frank, Barr, Francis A., Gleeson, Joseph G.
Publicado em 2017Texto -
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Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 por Gregor, Anne, Albrecht, Beate, Bader, Ingrid, Bijlsma, Emilia K, Ekici, Arif B, Engels, Hartmut, Hackmann, Karl, Horn, Denise, Hoyer, Juliane, Klapecki, Jakub, Kohlhase, Jürgen, Maystadt, Isabelle, Nagl, Sandra, Prott, Eva, Tinschert, Sigrid, Ullmann, Reinhard, Wohlleber, Eva, Woods, Geoffrey, Reis, André, Rauch, Anita, Zweier, Christiane
Publicado em 2011Texto -
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Zika Virus Protease Cleavage of Host Protein Septin-2 Mediates Mitotic Defects in Neural Progenitors por Li, Hongda, Saucedo-Cuevas, Laura, Yuan, Ling, Ross, Danica, Johansen, Anide, Sands, Daniel, Stanley, Valentina, Guemez-Gamboa, Alicia, Gregor, Anne, Evans, Todd, Chen, Shuibing, Tan, Lei, Molina, Henrik, Sheets, Nicholas, Shiryaev, Sergey A., Terskikh, Alexey V., Gladfelter, Amy S., Shresta, Sujan, Xu, Zhiheng, Gleeson, Joseph G.
Publicado em 2019Texto -
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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila por Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane
Publicado em 2018Texto -
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases por Haskamp, Stefan, Bruns, Heiko, Hahn, Madelaine, Hoffmann, Markus, Gregor, Anne, Löhr, Sabine, Hahn, Jonas, Schauer, Christine, Ringer, Mark, Flamann, Cindy, Frey, Benjamin, Lesner, Adam, Thiel, Christian T., Ekici, Arif B., von Hörsten, Stephan, Aßmann, Gunter, Riepe, Claudia, Euler, Maximilien, Schäkel, Knut, Philipp, Sandra, Prinz, Jörg C., Mößner, Rotraut, Kersting, Florina, Sticherling, Michael, Sefiani, Abdelaziz, Lyahyai, Jaber, Sondermann, Wiebke, Oji, Vinzenz, Schulz, Peter, Wilsmann-Theis, Dagmar, Sticht, Heinrich, Schett, Georg, Reis, André, Uebe, Steffen, Frey, Silke, Hüffmeier, Ulrike
Publicado em 2020Texto -
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Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome por Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson-Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Gali, Heimer, Pillar, Nir, Shomron, Noam, Weissglas-Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben-Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.
Publicado em 2018Texto -
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Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing por Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane
Publicado em 2020Texto -
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De novo missense variants in FBXO11 alter its protein expression and subcellular localization por Gregor, Anne, Meerbrei, Tanja, Gerstner, Thorsten, Toutain, Annick, Lynch, Sally Ann, Stals, Karen, Maxton, Caroline, Lemke, Johannes R, Bernat, John A, Bombei, Hannah M, Foulds, Nicola, Hunt, David, Kuechler, Alma, Beygo, Jasmin, Stöbe, Petra, Bouman, Arjan, Palomares-Bralo, Maria, Santos-Simarro, Fernando, Garcia-Minaur, Sixto, Pacio-Miguez, Marta, Popp, Bernt, Vasileiou, Georgia, Hebebrand, Moritz, Reis, André, Schuhmann, Sarah, Krumbiegel, Mandy, Brown, Natasha J, Sparber, Peter, Melikyan, Lyusya, Bessonova, Liudmila, Cherevatova, Tatiana, Sharkov, Artem, Shcherbakova, Natalia, Dabir, Tabib, Kini, Usha, Schwaibold, Eva M C, Haack, Tobias B, Bertoli, Marta, Hoffjan, Sabine, Falb, Ruth, Shinawi, Marwan, Sticht, Heinrich, Zweier, Christiane
Publicado em 2021Texto -
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder por Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cogné, Benjamin, Dallapiccola, Bruno, Distelmaier, Felix, Elmslie, Frances, Faivre, Laurence, Haack, Tobias B., Harrison, Victoria, Henderson, Alex, Hunt, David, Isidor, Bertrand, Joset, Pascal, Kumada, Satoko, Lachmeijer, Augusta M.A., Lees, Melissa, Lynch, Sally Ann, Martinez, Francisco, Matsumoto, Naomichi, McDougall, Carey, Mefford, Heather C., Miyake, Noriko, Myers, Candace T., Moutton, Sébastien, Nesbitt, Addie, Novelli, Antonio, Orellana, Carmen, Rauch, Anita, Rosello, Monica, Saida, Ken, Santani, Avni B., Sarkar, Ajoy, Scheffer, Ingrid E., Shinawi, Marwan, Steindl, Katharina, Symonds, Joseph D., Zackai, Elaine H., Reis, André, Sticht, Heinrich, Zweier, Christiane
Publicado em 2018Texto -
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Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado em 2017Texto