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Yael Goldberg

Showing results (51-60 of 116) with videos related to

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Current Issues in Molecular Biology|March 27, 2024
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>Iris Deitch, Sofia Itskov, Daan Panneman, et al.
Clinical Genetics|December 30, 2021
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predispositionOrli Michaeli, Hagay Ladany, Ayelet Erez, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Familial Cancer|November 21, 2016
Recurrent TP53 missense mutation in cancer patients of Arab descentAviad Zick, Luna Kadouri, Sherri Cohen, et al.
Familial Cancer|December 23, 2008
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type IHelen Toledano, Yael Goldberg, Inbal Kedar-Barnes, et al.
Thoracic Cancer|April 24, 2023
Correlations between pathogenic variants in DNA repair genes and anticancer treatment efficacy in stage IV non-small cell lung cancer: A large real-world cohort and review of the literatureItamar Averbuch, Roi Tschernichovsky, Oded Icht, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinationsIdit Maya, Reuven Sharony, Shiri Yacobson, et al.
Hereditary Cancer in Clinical Practice|January 21, 2022
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic backgroundLior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, et al.
Gene|August 27, 2023
Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in IsraelNaama Orenstein, Yael Mozer Glassberg, Vered Shkalim-Zemer, et al.
Pageof 12

Showing results (51-60 of 116) with videos related to

Sort By:
Pageof 12
Current Issues in Molecular Biology|March 27, 2024
Autosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in <i>BBS9</i>Iris Deitch, Sofia Itskov, Daan Panneman, et al.
Clinical Genetics|December 30, 2021
Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predispositionOrli Michaeli, Hagay Ladany, Ayelet Erez, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
Familial Cancer|November 21, 2016
Recurrent TP53 missense mutation in cancer patients of Arab descentAviad Zick, Luna Kadouri, Sherri Cohen, et al.
Familial Cancer|December 23, 2008
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type IHelen Toledano, Yael Goldberg, Inbal Kedar-Barnes, et al.
Thoracic Cancer|April 24, 2023
Correlations between pathogenic variants in DNA repair genes and anticancer treatment efficacy in stage IV non-small cell lung cancer: A large real-world cohort and review of the literatureItamar Averbuch, Roi Tschernichovsky, Oded Icht, et al.
Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinationsIdit Maya, Reuven Sharony, Shiri Yacobson, et al.
Hereditary Cancer in Clinical Practice|January 21, 2022
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic backgroundLior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, et al.
Gene|August 27, 2023
Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in IsraelNaama Orenstein, Yael Mozer Glassberg, Vered Shkalim-Zemer, et al.
Pageof 12