Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)]

por Zafer, Emre, Meck, Jeanne, Gerrad, Liora, Pras, Elon, Frydman, Moshe, Reish, Orit, Avni, Isaac, Pras, Eran
Publicado 2008

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene

por Pras, Eran, Abu, Almogit, Rotenstreich, Ygal, Avni, Isaac, Reish, Orit, Morad, Yair, Reznik-Wolf, Haike, Pras, Elon
Publicado 2009

Congenital myopathy is caused by mutation of HACD1

por Muhammad, Emad, Reish, Orit, Ohno, Yusuke, Scheetz, Todd, DeLuca, Adam, Searby, Charles, Regev, Miriam, Benyamini, Lilach, Fellig, Yakov, Kihara, Akio, Sheffield, Val C., Parvari, Ruti
Publicado 2013