Bilaketaren emaitzak - Tamar Ben‐Yosef

Findu emaitzak
  1. 1
    Inherited Retinal Diseases

    Inherited Retinal Diseases nork Tamar Ben‐Yosef

    Argitaratua 2022
    Testu osoa Testu osoa
    Editorial
    Gogokoenen artean sartu
    Gorde:
  2. 2
    Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

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

    Argitaratua 2020
    Testu osoa Testu osoa
    Revisão
    Gogokoenen artean sartu
    Gorde:
  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 nork Liron Dvir, Gassoub Srour, Rasmi Abu-Ras, Benjamin T. Miller, Stavit A. Shalev, Tamar Ben‐Yosef

    Argitaratua 2010
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork Igor Nudelman, Annie Rebibo-Sabbah, Marina Cherniavsky, Valery Belakhov, Mariana Hainrichson, Fuquan Chen, Jochen Schacht, Daniel S. Pilch, Tamar Ben‐Yosef, Timor Baasov

    Argitaratua 2009
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork Perrine Busquet, Ngoc Khoi Nguyen, Eduard Schmid, Naoyuki Tanimoto, Mathias W. Seeliger, Tamar Ben‐Yosef, Fengxia Mizuno, Abram Akopian, Jörg Striessnig, Nicolas Singewald

    Argitaratua 2009
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2010
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2018
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2011
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2016
    Testu osoa Testu osoa
    Errata/Corrigenda
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2016
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  11. 11
    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa

    Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa nork 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

    Argitaratua 2010
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  12. 12
    Spectrum of PEX1 and PEX6 variants in Heimler syndrome

    Spectrum of PEX1 and PEX6 variants in Heimler syndrome nork 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

    Argitaratua 2016
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2003
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2001
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2010
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2003
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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) nork 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

    Argitaratua 2015
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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) nork 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

    Argitaratua 2019
    Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2021
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:
  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 nork 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

    Argitaratua 2015
    Testu osoa Testu osoa
    Artigo
    Gogokoenen artean sartu
    Gorde:

Bilaketa egiteko lanabesak: