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

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

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

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

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

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

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

per 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
Publicat a Eur J Hum Genet (2015)

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

per 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.
Publicat a BMC Med Genet (2016)

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

per 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
Publicat a Eur J Hum Genet (2018)

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

per 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.
Publicat 2011

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

per 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
Publicat a Hum Genome Var (2020)

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

per 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.
Publicat a Brain (2017)

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

per 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.
Publicat a Eur J Hum Genet (2019)