检索结果 - Ephrat Levy‐Lahad
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Cancer risks among BRCA1 and BRCA2 mutation carriers 由 Ephrat Levy‐Lahad, Eitan Friedman
出版 2007Revisão -
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Dr. Segel and colleagues reply 由 Reeval Segel, Mary‐Claire King, Ephrat Levy‐Lahad
出版 2014Artigo -
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Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome 由 Sarah B. Pierce, Ksenija Geršak, Rachel Michaelson‐Cohen, Tom Walsh, Ming K. Lee, Daniel Malach, Rachel E. Klevit, Mary‐Claire King, Ephrat Levy‐Lahad
出版 2013Artigo -
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Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood 由 Gidon Toperoff, Dvir Aran, Jeremy D. Kark, Michael Rosenberg, Tatyana Dubnikov, Batel Nissan, Julio Wainstein, Yechiel Friedlander, Ephrat Levy‐Lahad, Benjamin Gläser, Asaf Hellman
出版 2011Artigo -
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A single nucleotide polymorphism in the <i>RAD51</i> gene modifies cancer risk in <i>BRCA2</i> but not <i>BRCA1</i> carriers 由 Ephrat Levy‐Lahad, Amnon Lahad, Shlomit Eisenberg, Efrat Dagan, Tamar Paperna, L Kasinetz, Raphael Catane, Bella Kaufman, Uziel Beller, Paul Renbaum, Ruth Gershoni‐Baruch
出版 2001Artigo -
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FMR1 Epigenetic Silencing Commonly Occurs in Undifferentiated Fragile X-Affected Embryonic Stem Cells 由 Michal Avitzour, Hagar Mor‐Shaked, Shira Yanovsky‐Dagan, Shira Aharoni, Gheona Altarescu, Paul Renbaum, Talia Eldar‐Geva, Oshrat Schonberger, Ephrat Levy‐Lahad, Silvina Epsztejn‐Litman, Rachel Eiges
出版 2014Artigo -
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Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome 由 Sarah B. Pierce, Tom Walsh, Karen M. Chisholm, Ming K. Lee, Anne Thornton, Agata Fiumara, John M. Opitz, Ephrat Levy‐Lahad, Rachel E. Klevit, Mary‐Claire King
出版 2010Artigo -
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The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects 由 Hila Fridman, Helger G. Yntema, Reedik Mägi, Reidar Andreson, Andres Metspalu, Massimo Mezzavilla, Chris Tyler‐Smith, Yali Xue, Shai Carmi, Ephrat Levy‐Lahad, Christian Gilissen, Han G. Brunner
出版 2021Artigo -
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Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells 由 Shira Yanovsky‐Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar‐Geva, Oshrat Schonberger, Stella Mitrani‐Rosenbaum, Ephrat Levy‐Lahad, Ramon Y. Birnbaum, Lior Gepstein, Silvina Epsztejn‐Litman, Rachel Eiges
出版 2015Artigo -
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XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription 由 David Zangen, Yotam Kaufman, Sharon Zeligson, Shira Perlberg, Hila Fridman, Moien Kanaan, Maha Abdulhadi‐Atwan, Abdulsalam Abu‐Libdeh, Ayal B. Gussow, Irit Kisslov, Liran Carmel, Paul Renbaum, Ephrat Levy‐Lahad
出版 2011Artigo -
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Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population 由 Avraham Shaag, Tom Walsh, Paul Renbaum, Tomas Kirchhoff, Khédoudja Nafa, Stacey Shiovitz, Jessica B. Mandell, Piri Welcsh, Ming K. Lee, Nathan A. Ellis, Kenneth Offit, Ephrat Levy‐Lahad, Mary‐Claire King
出版 2005Artigo
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Biology
Genetics
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Heterozygote advantage
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DNA methylation
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Germline mutation
Missense mutation