Progressive Visual Loss Without Retinal Detachment in Stickler Syndrome: An Uncommon and Novel Presentation

por Navarrete, Ana, Kimchi, Adva, Levy, Jaime, Meiner, Vardiella, Amer, Radgonde, Yahalom, Claudia
Publicado 2020

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

por Ruberto, Francesco Paolo, Balzano, Sara, Namburi, Prasanthi, Kimchi, Adva, Pescini-Gobert, Rosanna, Obolensky, Alexey, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror, Rivolta, Carlo
Publicado 2021

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

por Beryozkin, Avigail, Shevah, Elia, Kimchi, Adva, Mizrahi-Meissonnier, Liliana, Khateb, Samer, Ratnapriya, Rinki, Lazar, Csilla H., Blumenfeld, Anat, Ben-Yosef, Tamar, Hemo, Yitzhak, Pe’er, Jacob, Averbuch, Eduard, Sagi, Michal, Boleda, Alexis, Gieser, Linn, Zlotogorski, Abraham, Falik-Zaccai, Tzipora, Alimi-Kasem, Ola, Jacobson, Samuel G., Chowers, Itay, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado 2015