Search Results - "exon"

Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation by Giuranna, Johanna (Author) , Zheng, Yiran (Author) , Brandt, Matthäus (Author) , Jall, Sigrid (Author) , Mukherjee, Amrita (Author) , Shankhwar, Soni (Author) , Renner, Simone (Author) , Kurapati, Nirup Kumar (Author) , May, Caroline (Author) , Peters, Triinu (Author) , Herpertz-Dahlmann, Beate (Author) , Seitz, Jochen (Author) , Zwaan, Martina de (Author) , Herzog, Wolfgang (Author) , Ehrlich, Stefan (Author) , Zipfel, Stephan (Author) , Giel, Katrin (Author) , Egberts, Karin M. (Author) , Burghardt, Roland (Author) , Föcker, Manuel (Author) , Marcus, Katrin (Author) , Keyvani, Kathy (Author) , Müller, Timo D. (Author) , Schmitz, Frank (Author) , Rajcsanyi, Luisa Sophie (Author) , Hinney, Anke (Author) ,

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Importance of N2BA titin in maintaining cardiac homeostasis and its role in dilated cardiomyopathy by van der Pijl, Robbert (Author) , Nusayr, Eyad (Author) , Strom, Joshua (Author) , Slater, Rebecca (Author) , Gohlke, Jochen (Author) , Hourani, Zaynab (Author) , Saripalli, Chandra (Author) , Kolb, Justin (Author) , Hermanson, Kyra (Author) , Brynnel, Odhin (Author) , Smith, John E. (Author) , Labeit, Siegfried (Author) , Methawasin, Mei (Author) , Granzier, Henk (Author) ,

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Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum: a case report by Burkart, Sebastian (Author) , Spanjaard, Melanie (Author) , Kaufmann, Lilian (Author) , Hinderhofer, Katrin (Author) , Schaaf, Christian P. (Author) , Ries, Markus (Author) , Hempel, Maja (Author) ,

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Exon-variant interplay and multi-modal evidence identify endocrine dysregulation in severe psychiatric disorders impacting excitatory neurons by Worf, Karolina (Author) , Matosin, Natalie (Author) , Gerstner, Nathalie (Author) , Fröhlich, Anna S. (Author) , Koller, Anna C. (Author) , Degenhardt, Franziska (Author) , Thiele, Holger (Author) , Rietschel, Marcella (Author) , Udawela, Madhara (Author) , Scarr, Elizabeth (Author) , Dean, Brian (Author) , Theis, Fabian J. (Author) , Mueller, Nikola S. (Author) , Knauer-Arloth, Janine (Author) ,

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Pathogenic deep intronic PCSK1 variant causes proprotein convertase 1/3 deficiency in a family: short report by Huber, Leah M. (Author) , Subaşıoğlu, Aslı (Author) , Garczarczyk-Asim, Dorota (Author) , Valovka, Taras (Author) , Müller, Thomas (Author) , Adam, Rüdiger (Author) , Janecke, Andreas R. (Author) ,

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Structures of aberrant spliceosome intermediates on their way to disassembly by Soni, Komal (Author) , Horvath, Attila (Author) , Dybkov, Olexandr (Author) , Schwan, Merlin (Author) , Trakansuebkul, Sasanan (Author) , Flemming, Dirk (Author) , Wild, Klemens (Author) , Urlaub, Henning (Author) , Fischer, Tamás (Author) , Sinning, Irmgard (Author) ,

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Giant RNA genomes: roles of host, translation elongation, genome architecture, and proteome in nidoviruses by Neuman, Benjamin (Author) , Smart, Alexandria (Author) , Gilmer, Orian (Author) , Smyth, Redmond P. (Author) , Vaas, Josef (Author) , Böker, Nicolai (Author) , Samborskiy, Dmitry V. (Author) , Bartenschlager, Ralf (Author) , Seitz, Stefan (Author) , Gorbalenya, Alexander E. (Author) , Caliskan, Neva (Author) , Lauber, Chris (Author) ,

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Morphomolekulare Subtypisierung hepatozellulärer Adenome by Straub, Beate Katharina (Author) , Müller, Lukas (Author) , Duret, Diane S. (Author) , Tóth, Marcell (Author) , Mittler, Jens (Author) , Schirmacher, Peter (Author) ,

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Thoracic aortic disease in patients with heterozygous variants outside the central region of FBN2 by Demal, Till Joscha (Author) , Sachse, Marco (Author) , Metzlaff, Celia (Author) , Schüler, Helke (Author) , Szöcs, Katalin (Author) , Olfe, Jakob (Author) , Stark, Veronika (Author) , Frommolt, Peter (Author) , von Kodolitsch, Yskert (Author) , Mir, Thomas S. (Author) , Rybczynski, Meike (Author) , Reichenspurner, Hermann (Author) , Kutsche, Kerstin (Author) , Kubisch, Christian (Author) , Detter, Christian (Author) , Rosenberger, Georg (Author) ,

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MOMENT registry: Patients with advanced non-small-cell lung cancer harboring MET exon 14 skipping treated with systemic therapy by Thomas, Michael (Author) , Christopoulos, Petros (Author) , Iams, Wade T. (Author) , Mazières, Julien (Author) , Cortot, Alexis B. (Author) , Peled, Nir (Author) , Minuti, Gabriele (Author) , Smit, Egbert F. (Author) , Audhuy, Francois (Author) , Berghoff, Karin (Author) , Eggleton, S. Peter (Author) , Fries, Frank (Author) , Hildenbrand, Maike (Author) , Liu, Peter (Author) , Mahmoudpour, Seyed Hamidreza (Author) , Menzel, Christoph (Author) , Oksen, Dina (Author) ,

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Trends in overall survival in lung adenocarcinoma with EGFR mutation, KRAS mutation, or no mutation by Faehling, Martin (Author) , Fallscheer, Sabine (Author) , Schwenk, Birgit (Author) , Seifarth, Harald (Author) , Sträter, Jörn (Author) , Lengerke, Claudia (Author) , Christopoulos, Petros (Author) ,

Subjects: “…Exon 21…”

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Structure of fungal tRNA ligase Trl1 with RNA reveals conserved substrate-binding principles by Köhler, Sandra (Author) , Kopp, Jürgen (Author) , Maiti, Satyabrata (Author) , Bujnicki, Janusz M. (Author) , Peschek, Jirka (Author) ,

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Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes by Harms, Frederike Leonie (Author) , Müller, Christian (Author) , Kortüm, Fanny (Author) , Hempel, Maja (Author) , Alawi, Malik (Author) , Zaki, Maha S. (Author) , Elhossini, Rasha M. (Author) , Abdel-Hamid, Mohamed S. (Author) , AlAbdi, Lama (Author) , Alkuraya, Fowzan S. (Author) , Kurdi, Wesam (Author) , Celse, Tristan (Author) , Spodenkiewicz, Marta (Author) , Laurens, Tiphany (Author) , Dieterich, Klaus (Author) , Jagadeesh, Sujatha (Author) , Salvankar, Sandesh (Author) , Girisha, Katta M. (Author) , Kutsche, Kerstin (Author) ,

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Genomic heterogeneity at baseline is associated with T790M resistance mutations in EGFR-mutated lung cancer treated with the first-/second-generation tyrosine kinase inhibitors by Menzel, Michael (Author) , Kirchner, Martina (Author) , Kluck, Klaus (Author) , Ball, Markus (Author) , Beck, Susanne (Author) , Allgäuer, Michael (Author) , Assmann, Christin (Author) , Schnorbach, Johannes (Author) , Volckmar, Anna-Lena (Author) , Tay, Timothy Kwang Yong (Author) , Goldschmid, Hannah (Author) , Tan, Daniel SW (Author) , Thomas, Michael (Author) , Kazdal, Daniel (Author) , Budczies, Jan (Author) , Stenzinger, Albrecht (Author) , Christopoulos, Petros (Author) ,

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Absence of the RING domain in MID1 results in patterning defects in the developing human brain by Frank, Sarah (Author) , Gabassi, Elisa (Author) , Käseberg, Stephan (Author) , Bertin, Marco (Author) , Zografidou, Lea (Author) , Pfeiffer, Daniela (Author) , Brennenstuhl, Heiko (Author) , Falk, Sven (Author) , Karow, Marisa (Author) , Schweiger, Susann (Author) ,

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Specific patterns in correlations of super-short tandem repeats (SSTRs) with G+C content, genic and intergenic regions, and retrotransposons on all human chromosomes by Henn, Lukas (Author) , Sievers, Aaron (Author) , Hausmann, Michael (Author) , Hildenbrand, Georg Lars (Author) ,

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Nashabat, Marwan (Author) , Nabavizadeh, Nasrinsadat (Author) , Saraçoğlu, Hilal Pırıl (Author) , Sarıbaş, Burak (Author) , Avcı, Şahin (Author) , Börklü, Esra (Author) , Beillard, Emmanuel (Author) , Yılmaz, Elanur (Author) , Uygur, Seyide Ecesu (Author) , Kayhan, Cavit Kerem (Author) , Bosco, Luca (Author) , Eren, Zeynep Bengi (Author) , Steindl, Katharina (Author) , Richter, Manuela Friederike (Author) , Bademci, Guney (Author) , Rauch, Anita (Author) , Fattahi, Zohreh (Author) , Valentino, Maria Lucia (Author) , Connolly, Anne M. (Author) , Bahr, Angela (Author) , Viola, Laura (Author) , Bergmann, Anke Katharina (Author) , Rocha, Maria Eugenia (Author) , Peart, LeShon (Author) , Castro-Rojas, Derly Liseth (Author) , Bültmann, Eva (Author) , Khan, Suliman (Author) , Giarrana, Miriam Liliana (Author) , Teleanu, Raluca Ioana (Author) , Gonzalez, Joanna Michelle (Author) , Pini, Antonella (Author) , Schädlich, Ines Sophie (Author) , Vill, Katharina (Author) , Brugger, Melanie (Author) , Züchner, Stephan (Author) , Pinto, Andreia (Author) , Donkervoort, Sandra (Author) , Bivona, Stephanie Ann (Author) , Riza, Anca (Author) , Streata, Ioana (Author) , Gläser, Dieter (Author) , Baquero-Montoya, Carolina (Author) , Garcia-Restrepo, Natalia (Author) , Kotzaeridou, Urania (Author) , Brunet, Theresa (Author) , Epure, Diana Anamaria (Author) , Bertoli-Avella, Aida M. (Author) , Kariminejad, Ariana (Author) , Tekin, Mustafa (Author) , von Hardenberg, Sandra (Author) , Bönnemann, Carsten G. (Author) , Stettner, Georg Martin (Author) , Zanni, Ginevra (Author) , Kayserili, Hülya (Author) , Oflazer, Zehra Piraye (Author) , Escande-Beillard, Nathalie (Author) ,

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Mobocertinib in patients with EGFR Exon 20 insertion-positive non-small cell lung cancer (MOON) an international real-world safety and efficacy analysis by Illini, Oliver (Author) , Saalfeld, Felix (Author) , Christopoulos, Petros (Author) , Duruisseaux, Michaël (Author) , Vikström, Anders (Author) , Peled, Nir (Author) , Demedts, Ingel (Author) , Dudnik, Elizabeth (Author) , Eisert, Anna (Author) , Hashemi, Sayed M. S. (Author) , Janzic, Urska (Author) , Kian, Waleed (Author) , Mohorcic, Katja (Author) , Mohammed, Saara (Author) , Silvoniemi, Maria (Author) , Rothschild, Sacha I. (Author) , Schulz, Christian (Author) , Wesseler, Claas (Author) , Addeo, Alfredo (Author) , Armster, Karin (Author) , Itchins, Malinda (Author) , Ivanović, Marija (Author) , Kauffmann-Guerrero, Diego (Author) , Koivunen, Jussi (Author) , Kuon, Jonas (Author) , Pavlakis, Nick (Author) , Piet, Berber (Author) , Sebastian, Martin (Author) , Velthaus-Rusik, Janna-Lisa (Author) , Wannesson, Luciano (Author) , Wiesweg, Marcel (Author) , Wurm, Robert (Author) , Albers-Leischner, Corinna (Author) , Aust, Daniela E. (Author) , Janning, Melanie (Author) , Fabikan, Hannah (Author) , Herold, Sylvia (Author) , Klimova, Anna (Author) , Loges, Sonja (Author) , Sharapova, Yana (Author) , Schütz, Maret (Author) , Weinlinger, Christoph (Author) , Valipour, Arschang (Author) , Overbeck, Tobias (Author) , Griesinger, Frank (Author) , Jakopovic, Marko (Author) , Hochmair, Maximilian (Author) , Wermke, Martin (Author) ,

Subjects: “…EGFR exon 20 inhibitors…”

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Newborn screening for aromatic l-amino acid decarboxylase deficiency: strategies, results, and implication for prevalence calculations by Reischl-Hajiabadi, Anna Theresa (Author) , Okun, Jürgen G. (Author) , Kohlmüller, Dirk (Author) , Manukjan, Georgi (Author) , Hegert, Sebastian (Author) , Durner, Jürgen (Author) , Schuhmann, Elfriede (Author) , Hörster, Friederike (Author) , Mütze, Ulrike (Author) , Feyh, Patrik (Author) , Hoffmann, Georg F. (Author) , Röschinger, Wulf (Author) , Janzen, Nils (Author) , Opladen, Thomas (Author) ,

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Both partial inactivation as well as activation of NF-κB signaling lead to hypertension and chronic kidney disease by Zhang, Xiaotan (Author) , Wang, Guang (Author) , Li, Ming (Author) , Li, Yunjin (Author) , Luo, Xin (Author) , Liu, Yvonne (Author) , Zhang, Xiaoli (Author) , Hocher, Johann-Georg (Author) , Krämer, Bernhard (Author) , Hocher, Berthold (Author) , Yang, Xuesong (Author) ,

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