Search Results

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: a PAH landscape by Himmelreich, Nastassja (Author) , Ramón-Maiques, Santiago (Author) , Navarrete, Rosa (Author) , Castejon-Fernandez, Natalia (Author) , Garbade, Sven (Author) , Martinez, Aurora (Author) , Desviat, Lourdes R. (Author) , Pérez, Belén (Author) , Blau, Nenad (Author) ,

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

aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment by Schröter, Julian (Author) , Dattner, Tal (Author) , Hüllein, Jennifer (Author) , Jayme, Alejandra (Author) , Heuveline, Vincent (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Lenz, Dominic (Author) , Opladen, Thomas (Author) , Popp, Bernt (Author) , Schaaf, Christian P. (Author) , Staufner, Christian (Author) , Syrbe, Steffen (Author) , Uhrig, Sebastian (Author) , Hübschmann, Daniel (Author) , Brennenstuhl, Heiko (Author) ,

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

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,

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