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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

Khan, Muzammil A. ; Rupp, Verena M. ; Orpinell, Meritxell ; Hussain, Muhammad S. ; Altmüller, Janine ; Steinmetz, Michel O. ; Enzinger, Christian ; Thiele, Holger ; Höhne, Wolfgang ; Nürnberg, Gudrun ; Baig, Shahid M. ; Ansar, Muhammad ; Nürnberg, Peter ; Vincent, John B. ; Speicher, Michael R. ; Gönczy, Pierre ; Windpassinger, Christian

In: Human Molecular Genetics, 2014, vol. 23, no. 22, p. 5940-5949

Consortium of Swiss Academic Libraries

Chitinase 3-like 1: prognostic biomarker in clinically isolated syndromes

Cantó, Ester ; Tintoré, Mar ; Villar, Luisa M. ; Costa, Carme ; Nurtdinov, Ramil ; Álvarez-Cermeño, José C. ; Arrambide, Georgina ; Reverter, Ferran ; Deisenhammer, Florian ; Hegen, Harald ; Khademi, Mohsen ; Olsson, Tomas ; Tumani, Hayrettin ; Rodríguez-Martín, Eulalia ; Piehl, Fredrik ; Bartos, Ales ; Zimova, Denisa ; Kotoucova, Jolana ; Kuhle, Jens ; Kappos, Ludwig ; García-Merino, Juan Antonio ; Sánchez, Antonio José ; Saiz, Albert ; Blanco, Yolanda ; Hintzen, Rogier ; Jafari, Naghmeh ; Brassat, David ; Lauda, Florian ; Roesler, Romy ; Rejdak, Konrad ; Papuc, Ewa ; de Andrés, Clara ; Rauch, Stefan ; Khalil, Michael ; Enzinger, Christian ; Galimberti, Daniela ; Scarpini, Elio ; Teunissen, Charlotte ; Sánchez, Alex ; Rovira, Alex ; Montalban, Xavier ; Comabella, Manuel

In: Brain, 2015, vol. 138, no. 4, p. 918-931

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