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Number of items: 3.

Alfadhel, Majid; Nashabat, Marwan; Alrifai, Muhammad Talal; Alshaalan, Hesham; Al Mutairi, Fuad; Al-Shahrani, Saif A; Plecko, Barbara; Almass, Rawan; Alsagob, Maysoon; Almutairi, Faten B; Al-Rumayyan, Ahmed; Al-Twaijri, Waleed; Al-Owain, Mohammed; Taylor, Robert W; Kaya, Namik (2018). Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. European Journal of Paediatric Neurology, 22(1):46-55.

Schiff, Manuel; Haberberger, Birgit; Xia, Chuanwu; Mohsen, Al-Walid; Goetzman, Eric S; Wang, Yudong; Uppala, Radha; Zhang, Yuxun; Karunanidhi, Anuradha; Prabhu, Dolly; Alharbi, Hana; Prochownik, Edward V; Haack, Tobias; Häberle, Johannes; Munnich, Arnold; Rötig, Agnes; Taylor, Robert W; Nicholls, Robert D; Kim, Jung-Ja; Prokisch, Holger; Vockley, Jerry (2015). Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Human Molecular Genetics, 24(11):3238-3247.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

This list was generated on Sun Jun 16 00:47:49 2019 CEST.