Items where Author is "Han, Ji Hoon"
Jump to: 2022 Number of items: 2. 2022Ansar, Muhammad and Javed, Samra and Baig, Hafiz Muhammad Azhar and Quinodoz, Mathieu and Ullah, Mukhtar and Han, Ji Hoon and Rahim, Muhammad Usama and Kausar, Humera and Calzetti, Giacomo and Rivolta, Carlo. (2022) A new nonsense mutation in; HMX1; in two siblings with oculoauricular syndrome. Ophthalmic Genetics, 43 (5). pp. 720-723. Han, Ji Hoon and Ryan, Gavin and Guy, Alyson and Liu, Lu and Quinodoz, Mathieu and Helbling, Ingrid and Lai-Cheong, Joey E. and Genomics England Research Consortium, and Barwell, Julian and Folcher, Marc and McGrath, John A. and Moss, Celia and Rivolta, Carlo. (2022) Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Human Molecular Genetics, 31 (12). pp. 1970-1978. |
