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	1.	Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. [electronic resource] by Betsalel, Ofir T Pop, Ana Rosenberg, Efraim H Fernandez-Ojeda, Matilde Jakobs, Cornelis Salomons, Gajja S Producer: 20120716 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [electronic resource] by Zabinyakov, Nikita Bullivant, Garrett Cao, Feng Fernandez Ojeda, Matilde Jia, Zheng Ping Wen, Xiao-Yan Dowling, James J Salomons, Gajja S Mercimek-Andrews, Saadet Producer: 20171113 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. [electronic resource] by Mendes, Marisa I Smith, Desirée Ec Pop, Ana Lennertz, Pascal Fernandez Ojeda, Matilde R Kanhai, Warsha A van Dooren, Silvy Jm Anikster, Yair Barić, Ivo Boelen, Caroline Campistol, Jaime de Boer, Lonneke Kariminejad, Ariana Kayserili, Hulya Roubertie, Agathe Verbruggen, Krijn T Vianey-Saban, Christine Williams, Monique Salomons, Gajja S Producer: 20170629 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. [electronic resource] by Nota, Benjamin Struys, Eduard A Pop, Ana Jansen, Erwin E Fernandez Ojeda, Matilde R Kanhai, Warsha A Kranendijk, Martijn van Dooren, Silvy J M Bevova, Marianna R Sistermans, Erik A Nieuwint, Aggie W M Barth, Magalie Ben-Omran, Tawfeg Hoffmann, Georg F de Lonlay, Pascale McDonald, Marie T Meberg, Alf Muntau, Ania C Nuoffer, Jean-Marc Parini, Rossella Read, Marie-Hélène Renneberg, Axel Santer, René Strahleck, Thomas van Schaftingen, Emile van der Knaap, Marjo S Jakobs, Cornelis Salomons, Gajja S Producer: 20130604 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)