检索结果 - Erger, Florian

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses 由 Erger, Florian, Burau, Karin, Elsässer, Michael, Zimmermann, Katharina, Moog, Ute, Netzer, Christian

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Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease 由 Taylan, Christina, Wenzel, Andrea, Erger, Florian, Göbel, Heike, Weber, Lutz T., Beck, Bodo B.

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cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA 由 Erger, Florian, Nörling, Deborah, Borchert, Domenica, Leenen, Esther, Habbig, Sandra, Wiesener, Michael S., Bartram, Malte P., Wenzel, Andrea, Becker, Christian, Toliat, Mohammad R., Nürnberg, Peter, Beck, Bodo B., Altmüller, Janine

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The adult phenotype of Schaaf-Yang syndrome 由 Marbach, Felix, Elgizouli, Magdeldin, Rech, Megan, Beygo, Jasmin, Erger, Florian, Velmans, Clara, Stumpel, Constance T. R. M., Stegmann, Alexander P. A., Beck-Wödl, Stefanie, Gillessen-Kaesbach, Gabriele, Horsthemke, Bernhard, Schaaf, Christian P., Kuechler, Alma

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Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling 由 Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Köntges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B., Habbig, Sandra

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The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping 由 Marbach, Felix, Rustad, Cecilie F., Riess, Angelika, Đukić, Dejan, Hsieh, Tzung-Chien, Jobani, Itamar, Prescott, Trine, Bevot, Andrea, Erger, Florian, Houge, Gunnar, Redfors, Maria, Altmueller, Janine, Stokowy, Tomasz, Gilissen, Christian, Kubisch, Christian, Scarano, Emanuela, Mazzanti, Laura, Fiskerstrand, Torunn, Krawitz, Peter M., Lessel, Davor, Netzer, Christian

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Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD) 由 Burgmaier, Kathrin, Ariceta, Gema, Bald, Martin, Buescher, Anja Katrin, Burgmaier, Mathias, Erger, Florian, Gessner, Michaela, Gokce, Ibrahim, König, Jens, Kowalewska, Claudia, Massella, Laura, Mastrangelo, Antonio, Mekahli, Djalila, Pape, Lars, Patzer, Ludwig, Potemkina, Alexandra, Schalk, Gesa, Schild, Raphael, Shroff, Rukshana, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Tkaczyk, Marcin, Weber, Lutz Thorsten, Wühl, Elke, Wurm, Donald, Wygoda, Simone, Zagozdzon, Ilona, Dötsch, Jörg, Oh, Jun, Schaefer, Franz, Liebau, Max Christoph

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Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19 由 Theobald, Sebastian J, Simonis, Alexander, Georgomanolis, Theodoros, Kreer, Christoph, Zehner, Matthias, Eisfeld, Hannah S, Albert, Marie‐Christine, Chhen, Jason, Motameny, Susanne, Erger, Florian, Fischer, Julia, Malin, Jakob J, Gräb, Jessica, Winter, Sandra, Pouikli, Andromachi, David, Friederike, Böll, Boris, Koehler, Philipp, Vanshylla, Kanika, Gruell, Henning, Suárez, Isabelle, Hallek, Michael, Fätkenheuer, Gerd, Jung, Norma, Cornely, Oliver A, Lehmann, Clara, Tessarz, Peter, Altmüller, Janine, Nürnberg, Peter, Kashkar, Hamid, Klein, Florian, Koch, Manuel, Rybniker, Jan

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Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain 由 Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G. S., Signer, Rebecca H., Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiß, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, Schaaf, Christian P.

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases 由 Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

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