Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult

Bằng Zhou, Min, Gradstein, Libe, Gonzales, John A., Tsilou, Ekaterini T., Gahl, William A., Chan, Chi-Chao
Được phát hành 2006

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Bằng Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S
Được phát hành 2014

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Bằng Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Xuất bản năm Invest Ophthalmol Vis Sci (2016)

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Bằng Fine, Dina, Flusser, Hagit, Markus, Barak, Shorer, Zamir, Gradstein, Libe, Khateeb, Shareef, Langer, Yshia, Narkis, Ginat, Birk, Ruth, Galil, Aharon, Shelef, Ilan, Birk, Ohad S
Xuất bản năm Eur J Hum Genet (2015)

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Bằng Gradstein, Libe, Zolotushko, Jenny, Sergeev, Yuri V., Lavy, Itay, Narkis, Ginat, Perez, Yonatan, Guigui, Sarah, Sharon, Dror, Banin, Eyal, Walter, Eyal, Lifshitz, Tova, Birk, Ohad S.
Xuất bản năm BMC Med Genet (2016)

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

Bằng Hanany, Mor, Allon, Gilad, Kimchi, Adva, Blumenfeld, Anat, Newman, Hadas, Pras, Eran, Wormser, Ohad, S. Birk, Ohad, Gradstein, Libe, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror
Xuất bản năm Eur J Hum Genet (2018)

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2

Bằng Mordechai, Shikma, Gradstein, Libe, Pasanen, Annika, Ofir, Rivka, El Amour, Khalil, Levy, Jaime, Belfair, Nadav, Lifshitz, Tova, Joshua, Sara, Narkis, Ginat, Elbedour, Khalil, Myllyharju, Johanna, Birk, Ohad S.
Được phát hành 2011

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

Bằng Nadeem, Raheela, Kabir, Firoz, Li, Jiali, Gradstein, Libe, Jiao, Xiaodong, Rauf, Bushra, Naeem, Muhammad Asif, Assir, Muhammad Zaman, Riazuddin, Sheikh, Ayyagari, Radha, Hejtmancik, J. Fielding, Riazuddin, S. Amer
Xuất bản năm Hum Genome Var (2020)

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Bằng Perez, Yonatan, Shorer, Zamir, Liani-Leibson, Keren, Chabosseau, Pauline, Kadir, Rotem, Volodarsky, Michael, Halperin, Daniel, Barber-Zucker, Shiran, Shalev, Hanna, Schreiber, Ruth, Gradstein, Libe, Gurevich, Evgenia, Zarivach, Raz, Rutter, Guy A., Landau, Daniel, Birk, Ohad S.
Xuất bản năm Brain (2017)

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

Bằng Wormser, Ohad, Gradstein, Libe, Yogev, Yuval, Perez, Yonatan, Kadir, Rotem, Goliand, Inna, Sadka, Yair, El Riati, Saad, Flusser, Hagit, Nachmias, Dikla, Birk, Ruth, Iraqi, Muhamad, Kadar, Einat, Gat, Roni, Drabkin, Max, Halperin, Daniel, Horev, Amir, Sivan, Sara, Abdu, Uri, Elia, Natalie, Birk, Ohad S.
Xuất bản năm Eur J Hum Genet (2019)