Mouse Model for Lowe Syndrome/Dent Disease 2 Renal Tubulopathy

Por Bothwell, Susan P., Chan, Emily, Bernardini, Isa M., Kuo, Yien-Ming, Gahl, William A., Nussbaum, Robert L.
Publicado em 2011

Two novel CTNS mutations in cystinosis patients in Thailand

Por Yeetong, Patra, Tongkobpetch, Siraprapa, Kingwatanakul, Pornchai, Deekajorndech, Tawatchai, Bernardini, Isa M., Suphapeetiporn, Kanya, Gahl, William A., Shotelersuk, Vorasuk
Publicado em 2012

Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism

Por Onojafe, Ighovie F., Adams, David R., Simeonov, Dimitre R., Zhang, Jun, Chan, Chi-Chao, Bernardini, Isa M., Sergeev, Yuri V., Dolinska, Monika B., Alur, Ramakrishna P., Brilliant, Murray H., Gahl, William A., Brooks, Brian P.
Publicado em 2011