Arama Sonuçları - Gradstein, Libe

Ocular Pathologic Features of Hermansky-Pudlak Syndrome Type 1 in an Adult Yazar: Zhou, Min, Gradstein, Libe, Gonzales, John A., Tsilou, Ekaterini T., Gahl, William A., Chan, Chi-Chao

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Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation Yazar: Perez, Yonatan, Gradstein, Libe, Flusser, Hagit, Markus, Barak, Cohen, Idan, Langer, Yshaia, Marcus, Mira, Lifshitz, Tova, Kadir, Rotem, Birk, Ohad S

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual Yazar: Beryozkin, Avigail, Levy, Gal, Blumenfeld, Anat, Meyer, Segev, Namburi, Prasanthi, Morad, Yair, Gradstein, Libe, Swaroop, Anand, Banin, Eyal, Sharon, Dror

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

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

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

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

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Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families Yazar: 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

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

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

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

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