Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes

por Elsana, Baker, Imtirat, Ahed, Yagev, Ronit, Gradstein, Libe, Majdalani, Pierre, Iny, Oren, Parvari, Ruti, Tsumi, Erez
Publicado 2022

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

por Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Publicado 2016

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

por 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.
Publicado 2016

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3

por Halperin, Daniel, Agam, Nadav, Hallak, Maher, Feinstein, Miora, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Shavit, Eitan, Gradstein, Libe, Shelef, Ilan, Mijalovsky, Aanalia, Flusser, Hagit, Birk, Ohad S.
Publicado 2022

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

por 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
Publicado 2020

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

por 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.
Publicado 2017

PSMC1 variant causes a novel neurological syndrome

por Aharoni, Sarit, Proskorovski‐Ohayon, Regina, Krishnan, Ramesh Kumar, Yogev, Yuval, Wormser, Ohad, Hadar, Noam, Bakhrat, Anna, Alshafee, Ismael, Gombosh, Maya, Agam, Nadav, Gradstein, Libe, Shorer, Zamir, Zarivach, Raz, Eskin‐Schwartz, Marina, Abdu, Uri, Birk, Ohad S.
Publicado 2022

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

por Wormser, Ohad, Perez, Yonatan, Dolgin, Vadim, Kamali, Bahman, Tangeman, Jared A., Gradstein, Libe, Yogev, Yuval, Hadar, Noam, Freund, Ofek, Drabkin, Max, Halperin, Daniel, Irron, Inbar, Grajales-Esquivel, Erika, Del Rio-Tsonis, Katia, Birnbaum, Ramon Y., Akler, Gidon, Birk, Ohad S.
Publicado 2023

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

por Kruijt, Charlotte C., Gradstein, Libe, Bergen, Arthur A., Florijn, Ralph J., Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B., Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S., de Wit, Gerard C., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
Publicado 2022