Search Results - Richter, Manuela Friederike

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies by Weisz-Hubshman, Monika (Author) , Burrage, Lindsay C. (Author) , Jangam, Sharayu V. (Author) , Rosenfeld, Jill A. (Author) , Hardenberg, Sandra von (Author) , Bergmann, Anke (Author) , Richter, Manuela Friederike (Author) , Rydzanicz, Malgorzata (Author) , Ploski, Rafal (Author) , Stembalska, Agnieszka (Author) , Chung, Wendy K. (Author) , Hernan, Rebecca R. (Author) , Lim, Foong Y. (Author) , Brunet, Theresa (Author) , Syrbe, Steffen (Author) , Keren, Boris (Author) , Heide, Solveig (Author) , Murdock, David R. (Author) , Dai, Hongzheng (Author) , Xia, Fan (Author) , Ketkar, Shamika (Author) , Dawson, Brian (Author) , Narayanan, Vinodh (Author) , Graves, Hillary K. (Author) , Wangler, Michael F. (Author) , Bacino, Carlos (Author) , Lee, Brendan (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

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) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext