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Publications for Alfadhel, M

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Number of items: 3.

2016

Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo-Graovac, Maja; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur; Faqeih, Eissa Ali; García Segarra, Nuria; Geraghty, Michael T; Jåtun, Bjørn Magne; Kalkan Uçar, Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S; van Karnebeek, Clara D M (2016). Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Molecular Genetics and Metabolism, 119(1-2):44-49.

Tarailo-Graovac, Maja; Shyr, Casper; Ross, Colin J; Horvath, Gabriella A; Salvarinova, Ramona; Ye, Xin C; Zhang, Lin-Hua; Bhavsar, Amit P; Lee, Jessica J Y; Drögemöller, Britt I; Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R; Burda, Patricie; Connolly, Mary B; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A Mark; Friedman, Jan M; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; et al (2016). Exome sequencing and the management of neurometabolic disorders. New England Journal of Medicine, 374(23):2246-2255.

Alfadhel, Majid; Mutairi, Fuad Al; Makhseed, Nawal; Jasmi, Fatma Al; Al-Thihli, Khalid; Al-Jishi, Emtithal; AlSayed, Moeenaldeen; Al-Hassnan, Zuhair N; Al-Murshedi, Fathiya; Häberle, Johannes; Ben-Omran, Tawfeg (2016). Guidelines for acute management of hyperammonemia in the Middle East region. Therapeutics and Clinical Risk Management, 12:479-487.

This list was generated on Wed Dec 13 03:22:01 2017 CET.