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2022
Park, Joohyun, Reilaender, Annemarie, Petry-Schmelzer, Jan N., Stoebe, Petra, Cordts, Isabell, Harmuth, Florian, Rautenberg, Maren, Woerz, Sarah E., Demidov, German, Sturm, Marc, Ossowski, Stephan ORCID: 0000-0002-7416-9568, Schwaibold, Eva M. C., Wunderlich, Gilbert, Paus, Sebastian, Saft, Carsten and Haack, Tobias B. (2022). Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia. Neurol.-Genet., 8 (1). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2376-7839
2017
Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Hoehne, Wolfgang, Noegel, Angelika Anna, Al-Owain, Mohammed, Hoertnagel, Konstanze, Stoebe, Petra, Baig, Shahid Mahmood, Nuernberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas and Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809 (2017). Mutations of KIF14 cause primary microcephaly by impairing cytokinesis. Ann. Neurol., 82 (4). S. 562 - 578. HOBOKEN: WILEY. ISSN 1531-8249