Resultados de procura - Tamar Ben‐Yosef

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  1. 1
    Inherited Retinal Diseases

    Inherited Retinal Diseases por Tamar Ben‐Yosef

    Publicado 2022
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    Editorial
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  2. 2
    Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

    Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects por Yasmin Tatour, Tamar Ben‐Yosef

    Publicado 2020
    Ligazón do recurso Ligazón do recurso
    Revisão
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  3. 3
    Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

    Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase por Liron Dvir, Gassoub Srour, Rasmi Abu-Ras, Benjamin T. Miller, Stavit A. Shalev, Tamar Ben‐Yosef

    Publicado 2010
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  4. 4
    Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

    Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations por Igor Nudelman, Annie Rebibo-Sabbah, Marina Cherniavsky, Valery Belakhov, Mariana Hainrichson, Fuquan Chen, Jochen Schacht, Daniel S. Pilch, Tamar Ben‐Yosef, Timor Baasov

    Publicado 2009
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  5. 5
    CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype

    CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype por Perrine Busquet, Ngoc Khoi Nguyen, Eduard Schmid, Naoyuki Tanimoto, Mathias W. Seeliger, Tamar Ben‐Yosef, Fengxia Mizuno, Abram Akopian, Jörg Striessnig, Nicolas Singewald

    Publicado 2009
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  6. 6
    Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

    Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa por Dikla Bandah‐Rozenfeld, Liliana Mizrahi‐Meissonnier, Chen Farhy, Alexey Obolensky, Itay Chowers, Jacob Pe’er, Saul Merin, Tamar Ben‐Yosef, Ruth Ashery‐Padan, Eyal Banin, Dror Sharon

    Publicado 2010
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  7. 7
    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

    A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans por Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Daμμe, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben‐Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon

    Publicado 2018
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  8. 8
    A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

    A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews por Lina Zelinger, Eyal Banin, Alexey Obolensky, Liliana Mizrahi‐Meissonnier, Avigail Beryozkin, Dikla Bandah‐Rozenfeld, Shahar Frenkel, Tamar Ben‐Yosef, Saul Merin, Sharon Schwartz, Artur V. Cideciyan, Samuel G. Jacobson, Dror Sharon

    Publicado 2011
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  9. 9
    Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

    Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss por Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H. Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben‐Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon

    Publicado 2016
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    Errata/Corrigenda
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  10. 10
    Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

    Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss por Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H. Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben‐Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon

    Publicado 2016
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  11. 11
    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa por Rob W.J. Collin, Christine Safieh, Karin W. Littink, Stavit A. Shalev, Hanna J. Garzozi, Leah Rizel, Anan H Abbasi, Frans P.M. Cremers, Anneke I. den Hollander, B. Jeroen Klevering, Tamar Ben‐Yosef

    Publicado 2010
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  12. 12
    Spectrum of PEX1 and PEX6 variants in Heimler syndrome

    Spectrum of PEX1 and PEX6 variants in Heimler syndrome por Claire E. L. Smith, James A. Poulter, Alex V. Levin, Jenina Capasso, Susan Price, Tamar Ben‐Yosef, Reuven Sharony, William G. Newman, Richard F. Shore, Steven J. Brookes, Alan J. Mighell, Chris F. Inglehearn

    Publicado 2016
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  13. 13
    A Mutation of<i>PCDH15</i>among Ashkenazi Jews with the Type 1 Usher Syndrome

    A Mutation of<i>PCDH15</i>among Ashkenazi Jews with the Type 1 Usher Syndrome por Tamar Ben‐Yosef, Seth Ness, Anne C. Madeo, Adi Bar-Lev, Jessica H. Wolfman, Zubair M. Ahmed, Robert J. Desnick, Judith P. Willner, Karen B. Avraham, Harry Ostrer, Carole Oddoux, Andrew J. Griffith, Thomas B. Friedman

    Publicado 2003
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  14. 14
    Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

    Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29 por Edward R. Wilcox, Quianna Burton, Sadaf Naz, Saima Riazuddin, Tenesha N. Smith, Barbara Ploplis, Inna A. Belyantseva, Tamar Ben‐Yosef, Nikki Liburd, Robert J. Morell, Bechara Kachar, Doris K. Wu, Andrew J. Griffith, Sheikh Riazuddin, Thomas B. Friedman

    Publicado 2001
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  15. 15
    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population

    Novel Null Mutations in the<i>EYS</i>Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population por Dikla Bandah‐Rozenfeld, Karin W. Littink, Tamar Ben‐Yosef, Tim M. Strom, Itay Chowers, Rob W.J. Collin, Anneke I. den Hollander, L. Ingeborgh van den Born, Marijke N. Zonneveld, Saul Merin, Eyal Banin, Frans P.M. Cremers, Dror Sharon

    Publicado 2010
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  16. 16
    Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

    Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration por Tamar Ben‐Yosef, Inna A. Belyantseva, Thomas L. Saunders, Elizabeth D. Hughes, Kohei Kawamoto, Christina M. Van Itallie, Lisa A. Beyer, Kärin Halsey, Donald J. Gardner, Edward R. Wilcox, Julia E. Rasmussen, James M. Anderson, David F. Dolan, Andrew Forge, Yehoash Raphael, Sally A. Camper, Thomas B. Friedman

    Publicado 2003
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  17. 17
    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) por Lonneke Haer‐Wigman, Horatio Hackett Newman, Rina Leibu, Nathalie M. Bax, Hagit Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben‐Yosef

    Publicado 2015
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  18. 18
    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

    A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) por Dror Sharon, Tamar Ben‐Yosef, Nitza Goldenberg‐Cohen, Eran Pras, Libe Gradstein, Shiri Zayit‐Soudry, Eedy Mezer, Dinah Zur, Anan H Abbasi, Christina Zeitz, Frans P.M. Cremers, Muhammad Imran Khan, Jaime Levy, Ygal Rotenstreich, Ohad S. Birk, Miriam Ehrenberg, Rina Leibu, Hadas Newman, Noam Shomron, Eyal Banin, Ido Perlman

    Publicado 2019
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  19. 19
    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

    Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases por Zeinab Fadaie, Laura Whelan, Tamar Ben‐Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer‐Wigman, Jordi Corominas, Galuh Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma Duignan, Paul F. Kenna, Frans P.M. Cremers, G. Jane Farrar, Susanne Roosing

    Publicado 2021
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  20. 20
    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

    Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies por Avigail Beryozkin, Elia Shevah, Adva Kimchi, Liliana Mizrahi‐Meissonnier, Samer Khateb, Rinki Ratnapriya, Csilla H. Lazar, Anat Blumenfeld, Tamar Ben‐Yosef, Yitzhak Hemo, Jacob Pe’er, Eduard Averbuch, Michal Sagi, Alexis Boleda, Linn Gieser, Abraham Zlotogorski, Tzipora C. Falik‐Zaccai, Ola Alimi-Kasem, Samuel G. Jacobson, Itay Chowers, Anand Swaroop, Eyal Banin, Dror Sharon

    Publicado 2015
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