Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ena Wang"'
Autor:
Wei Liu, Ramzi Temanni, Puthen V. Jithesh, Remy Hobeika, Yvette Macary, Konduru S Sastry, Nancy Choucair, Monko Lek, Rashid Al-Ali, Aouatef Ismail Chouchane, Lotfi Chouchane, Ena Wang, Daniel G. MacArthur, Moncef M. Ladjimi, Francesco M. Marincola, Catherine M. Rose, Remy Thomas, André Mégarbané, Sara Tomei
Publikováno v:
BMC Medical Genetics
Background KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrom
Autor:
Mégarbané, André, Al-Ali, Rashid, Choucair, Nancy, Lek, Monko, Ena Wang, Ladjimi, Moncef, Rose, Catherine M., Hobeika, Remy, Macary, Yvette, Temanni, Ramzi, Jithesh, Puthen V., Chouchane, Aouatef, Sastry, Konduru S., Thomas, Remy, Tomei, Sara, Wei Liu, Marincola, Francesco M., MacArthur, Daniel, Chouchane, Lotfi
Publikováno v:
BMC Medical Genetics; 6/10/2016, Vol. 17, p1-11, 11p
Autor:
Fiza Butt, Bernice Lo, Sara Deola, Sara Tomei, Noor Al-Hajri, Amal Robay, Ronald G. Crystal, Chiara Cugno, Marios Kambouris, Francesco M. Marincola, Alya Al-Shakaki, Ena Wang, Abeer A. Fadda, Khalid A. Fakhro
Publikováno v:
BMC Medical Genetics
Background Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are