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Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use by Worthmann, Anna (Author) , Ridder, Julius (Author) , Piel, Sharlaine Y. L. (Author) , Evangelakos, Ioannis (Author) , Musfeldt, Melina (Author) , Voß, Hannah (Author) , O’Farrell, Marie (Author) , Fischer, Alexander W. (Author) , Adak, Sangeeta (Author) , Sundd, Monica (Author) , Siffeti, Hasibullah (Author) , Haumann, Friederike (Author) , Kloth, Katja (Author) , Bierhals, Tatjana (Author) , Heine, Markus (Author) , Pertzborn, Paul (Author) , Pauly, Mira (Author) , Scholz, Julia-Josefine (Author) , Kundu, Suman (Author) , Fuh, Marceline M. (Author) , Neu, Axel (Author) , Tödter, Klaus (Author) , Hempel, Maja (Author) , Knippschild, Uwe (Author) , Semenkovich, Clay F. (Author) , Schlüter, Hartmut (Author) , Heeren, Joerg (Author) , Scheja, Ludger (Author) , Kubisch, Christian (Author) , Schlein, Christian (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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Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions: reevaluation of the defining characteristics in a registry-based cohort by Metzgeroth, Georgia (Author) , Steiner, Laurenz (Author) , Naumann, Nicole (Author) , Lübke, Johannes (Author) , Kreil, Sebastian (Author) , Fabarius, Alice (Author) , Haferlach, Claudia (Author) , Haferlach, Torsten (Author) , Hofmann, Wolf-Karsten (Author) , Cross, Nicholas C. P. (Author) , Schwaab, Juliana (Author) , Reiter, Andreas (Author) ,

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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype by Demal, Till Joscha (Author) , Scholz, Tasja (Author) , Schüler, Helke (Author) , Olfe, Jakob (Author) , Fröhlich, Anja (Author) , Speth, Fabian (Author) , Kodolitsch, Yskert von (Author) , Mir, Thomas S. (Author) , Reichenspurner, Hermann (Author) , Kubisch, Christian (Author) , Hempel, Maja (Author) , Rosenberger, Georg (Author) ,

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Never-homozygous genetic variants in healthy populations are potential recessive disease candidates by Schmenger, Torsten (Author) , Diwan, Gaurav (Author) , Singh, Gurdeep (Author) , Apic, Gordana (Author) , Russell, Robert B. (Author) ,

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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome by Lemaire, Mathieu (Author) , Frémeaux-Bacchi, Véronique (Author) , Schaefer, Franz (Author) , Choi, Murim (Author) , Tang, Wai Ho (Author) , Le Quintrec, Moglie (Author) , Fakhouri, Fadi (Author) , Taque, Sophie (Author) , Nobili, François (Author) , Martinez, Frank (Author) , Ji, Weizhen (Author) , Overton, John D. (Author) , Mane, Shrikant M. (Author) , Nürnberg, Gudrun (Author) , Altmüller, Janine (Author) , Thiele, Holger (Author) , Morin, Denis (Author) , Deschenes, Georges (Author) , Baudouin, Véronique (Author) , Llanas, Brigitte (Author) , Collard, Laure (Author) , Majid, Mohammed A. (Author) , Simkova, Eva (Author) , Nürnberg, Peter (Author) , Rioux-Leclerc, Nathalie (Author) , Moeckel, Gilbert W. (Author) , Gubler, Marie Claire (Author) , Hwa, John (Author) , Loirat, Chantal (Author) , Lifton, Richard P. (Author) ,

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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome by Willer, Tobias (Author) , Lommel, Mark (Author) , Strahl, Sabine (Author) ,

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum by Davis, Erica E. (Author) , Zhang, Qi (Author) , Liu, Qin (Author) , Diplas, Bill H. (Author) , Davey, Lisa M. (Author) , Hartley, Jane (Author) , Stoetzel, Corinne (Author) , Szymanska, Katarzyna (Author) , Ramaswami, Gokul (Author) , Logan, Clare V. (Author) , Muzny, Donna M. (Author) , Young, Alice C. (Author) , Wheeler, David A. (Author) , Cruz, Pedro (Author) , Morgan, Margaret (Author) , Lewis, Lora R. (Author) , Cherukuri, Praveen (Author) , Maskeri, Baishali (Author) , Hansen, Nancy F. (Author) , Mullikin, James C. (Author) , Blakesley, Robert W. (Author) , Bouffard, Gerard G. (Author) , Gyapay, Gabor (Author) , Rieger, Susanne (Author) , Tönshoff, Burkhard (Author) , Kern, Ilse (Author) , Soliman, Neveen A. (Author) , Neuhaus, Thomas J. (Author) , Swoboda, Kathryn J. (Author) , Kayserili, Hulya (Author) , Gallagher, Tomas E. (Author) , Lewis, Richard A. (Author) , Bergmann, Carsten (Author) , Otto, Edgar A. (Author) , Saunier, Sophie (Author) , Scambler, Peter J. (Author) , Beales, Philip L. (Author) , Gleeson, Joseph G. (Author) , Maher, Eamonn R. (Author) , Attié-Bitach, Tania (Author) , Dollfus, Hélène (Author) , Johnson, Colin A. (Author) , Green, Eric D. (Author) , Gibbs, Richard A. (Author) , Hildebrandt, Friedhelm (Author) , Pierce, Eric A. (Author) , Katsanis, Nicholas (Author) ,

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Genome-wide association study identifies five new schizophrenia loci by Ripke, Stephan (Author) , Rietschel, Marcella (Author) ,

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