Search Results - Erger, Florian

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy by Erger, Florian (Author) , Aryal, Rajindra P. (Author) , Reusch, Björn (Author) , Matsumoto, Yasuyuki (Author) , Meyer, Robert (Author) , Zeng, Junwei (Author) , Knopp, Cordula (Author) , Noel, Maxence (Author) , Muerner, Lukas (Author) , Wenzel, Andrea (Author) , Kohl, Stefan (Author) , Tschernoster, Nikolai (Author) , Rappl, Gunter (Author) , Rouvet, Isabelle (Author) , Schröder-Braunstein, Jutta (Author) , Seibert, Felix S. (Author) , Thiele, Holger (Author) , Häusler, Martin G. (Author) , Weber, Lutz T. (Author) , Büttner-Herold, Maike (Author) , Elbracht, Miriam (Author) , Cummings, Sandra F. (Author) , Altmüller, Janine (Author) , Habbig, Sandra (Author) , Cummings, Richard D. (Author) , Beck, Bodo B. (Author) ,

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

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Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants by Burgmaier, Kathrin (Author) , Brinker, Leonie (Author) , Erger, Florian (Author) , Beck, Bodo B. (Author) , Benz, Marcus R. (Author) , Bergmann, Carsten (Author) , Boyer, Olivia (Author) , Collard, Laure (Author) , Dafinger, Claudia (Author) , Fila, Marc (Author) , Kowalewska, Claudia (Author) , Lange-Sperandio, Bärbel (Author) , Massella, Laura (Author) , Mastrangelo, Antonio (Author) , Mekahli, Djalila (Author) , Miklaszewska, Monika (Author) , Ortiz-Bruechle, Nadina (Author) , Patzer, Ludwig (Author) , Prikhodina, Larisa (Author) , Ranchin, Bruno (Author) , Ranguelov, Nadejda (Author) , Schild, Raphael (Author) , Seeman, Tomas (Author) , Sever, Lale (Author) , Sikora, Przemyslaw (Author) , Szczepanska, Maria (Author) , Teixeira, Ana (Author) , Thumfart, Julia (Author) , Uetz, Barbara (Author) , Weber, Lutz Thorsten (Author) , Wühl, Elke (Author) , Zerres, Klaus (Author) , Dötsch, Jörg (Author) , Schaefer, Franz (Author) , Liebau, Max Christoph (Author) , Eid, Loai Akram (Author) , Arbeiter, Klaus (Author) , Godefroid, Nathalie (Author) , Lombet, Jacques (Author) , De Mul, Aurélie (Author) , Feldkoetter, Markus (Author) , Zieg, Jakub (Author) , Grundmann, Franziska (Author) , Galiano, Matthias (Author) , Buchholz, Björn (Author) , Buescher, Anja (Author) , Häffner, Karsten (Author) , Gross, Oliver (Author) , Oh, Jun (Author) , Haffner, Dieter (Author) , Bernhardt, Wanja (Author) , Schäfer, Susanne (Author) , Wygoda, Simone (Author) , Halbritter, Jan (Author) , Derichs, Ute (Author) , Klaus, Günter (Author) , Lechner, Felix (Author) , Ponsel, Sabine (Author) , König, Jens (Author) , Staude, Hagen (Author) , Wurm, Donald (Author) , Bald, Martin (Author) , Gessner, Michaela (Author) , Soliman, Neveen A. (Author) , Ariceta, Gema (Author) , Gonzalez Rodriguez, Juan David (Author) , Ojeda, Francisco de la Cerda (Author) , Harambat, Jerome (Author) , Morin, Denis (Author) , Dossier, Claire (Author) , Dorval, Guillaume (Author) , Shroff, Rukshana (Author) , Stabouli, Stella (Author) , Hooman, Nakysa (Author) , Mencarelli, Francesca (Author) , Morello, William (Author) , Longo, Germana (Author) , Emma, Francesco (Author) , Jankauskiene, Augustina (Author) , Taranta-Janusz, Katarzyna (Author) , Zagozdzon, Ilona (Author) , Zachwieja, Katarzyna (Author) , Stanczyk, Malgorzata (Author) , Bienias, Beata (Author) , Litwin, Mieczyslaw (Author) , Morawiec-Knysak, Aurelia (Author) , Afonso, Alberto Caldas (Author) , Dunand, Oliver (Author) , Rachisan, Andreea (Author) , Miloševski-Lomić, Gordana (Author) , Papizh, Svetlana (Author) , Rus, Rina (Author) , Jilani, Houweyda (Author) , Atmis, Bahriye (Author) , Duzova, Ali (Author) , Soylu, Alper (Author) , Candan, Cengiz (Author) , Caliskan, Salim (Author) , Yilmaz, Alev (Author) , Gökce, İbrahim (Author) , Akinci, Nurver (Author) , Mir, Sevgi (Author) , Dursun, Ismail (Author) , Tabel, Yilmaz (Author) , Nalcacioglu, Hulya (Author) ,

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

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Long-term data on two sisters with C3GN due to an identical, homozygous CFH mutation and autoantibodies by Hackl, Agnes (Author) , Erger, Florian (Author) , Skerka, Christine (Author) , Wenzel, Andrea (Author) , Tschernoster, Nikoai (Author) , Ehren, Rasmus (Author) , Burgmaier, Kathrin (Author) , Riehmer, Vera (Author) , Licht, Christoph (Author) , Kirschfink, Michael (Author) , Weber, Lutz T. (Author) , Altmüller, Janine (Author) , Zipfel, Peter F. (Author) , Habbig, Sandra (Author) ,

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

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