Items where Author is "Khan, Muhammad Imran"

2019

Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884.

2016

Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776.