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

द्वारा Zhou, Min, Gradstein, Libe, Gonzales, John A., Tsilou, Ekaterini T., Gahl, William A., Chan, Chi-Chao
प्रकाशित 2006

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

द्वारा Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S
प्रकाशित 2014

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

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

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

द्वारा 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
में प्रकाशित Eur J Hum Genet (2015)

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

द्वारा 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.
में प्रकाशित BMC Med Genet (2016)

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

द्वारा 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
में प्रकाशित Eur J Hum Genet (2018)

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

द्वारा 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.
प्रकाशित 2011

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

द्वारा 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
में प्रकाशित Hum Genome Var (2020)

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

द्वारा 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.
में प्रकाशित Brain (2017)

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

द्वारा 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.
में प्रकाशित Eur J Hum Genet (2019)