Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Tom, Rabinowitz"'
Autor:
Noa Liscovitch-Brauer, Tom Rabinowitz, Sapir Bornstein, Lilach Schneor, Ravit Mesika, Meitar Grad, Reut Tomashov Matar, Lina Basel-Salmon, Oren Tadmor, Amir Beker, Noam Shomron
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101670- (2024)
Externí odkaz:
https://doaj.org/article/48ae3a806ea9413aa9fe46ed0328d550
Autor:
Noa Liscovitch-Brauer, Ravit Mesika, Tom Rabinowitz, Hadas Volkov, Meitar Grad, Reut Tomashov Matar, Lina Basel-Salmon, Oren Tadmor, Amir Beker, Noam Shomron
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101674- (2024)
Externí odkaz:
https://doaj.org/article/725d1b51ef174d85a0b45d8d66449184
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 509-517 (2021)
The technology of noninvasive prenatal testing (NIPT) enables risk-free detection of genetic conditions in the fetus, by analysis of cell-free DNA (cfDNA) in maternal blood. For chromosomal abnormalities, NIPT often effectively replaces invasive test
Externí odkaz:
https://doaj.org/article/6c7be39824a844cdac28546adf2a008c
Autor:
Tom Rabinowitz, Noam Shomron
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2463-2470 (2020)
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Though currently available
Externí odkaz:
https://doaj.org/article/9140a1bb69414f148551407ca7980372
Autor:
Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef
Publikováno v:
Molecular Vision, Vol 25, Iss 1, Pp 155-164 (2019)
Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coher
Externí odkaz:
https://doaj.org/article/94c117db1aaf469d96cce335fc19220f
Autor:
Noam Shomron, Karen B. Avraham, Jayasankaran Chandru, Le Cheng, Paridhy Vanniya. S, C. R. Srikumari Srisailapathy, Justin Margret Jeffrey, Zippora Brownstein, Mathuravalli Krishnamoorthy, Tom Rabinowitz
Publikováno v:
Annals of Human Genetics. 86:1-13
The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f298c7f2fd9e1c55ca19f21b65a9783c
https://doi.org/10.1111/ahg.12442
https://doi.org/10.1111/ahg.12442
Autor:
Noam Shomron, Tom Rabinowitz
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss, Pp 2463-2470 (2020)
Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal
Graphical abstract
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Th
Noninvasive prenatal diagnosis (NIPD) is a risk-free alternative to invasive methods for prenatal diagnosis, e.g. amniocentesis. NIPD is based on the presence of fetal DNA within the mother’s plasma cell-free DNA (cfDNA). Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef360722c284d2ef2fb62710e6c6014
http://www.sciencedirect.com/science/article/pii/S2001037020303871
http://www.sciencedirect.com/science/article/pii/S2001037020303871
Autor:
Paridhy, Vanniya S, Jayasankaran, Chandru, Justin Margret, Jeffrey, Tom, Rabinowitz, Zippora, Brownstein, Mathuravalli, Krishnamoorthy, Karen B, Avraham, Le, Cheng, Noam, Shomron, C R Srikumari, Srisailapathy
Publikováno v:
Annals of human geneticsREFERENCES. 86(1)
The study was conducted between 2018 and 2020. From a cohort of 113 hearing impaired (HI), five non-DFNB12 probands identified with heterozygous CDH23 variants were subjected to exome analysis. This resolved the etiology of hearing loss (HL) in four
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d234f65dae95f1dfd8cc39e6e771de24
https://pubmed.ncbi.nlm.nih.gov/34374074
https://pubmed.ncbi.nlm.nih.gov/34374074
Autor:
Guy Shapira, Reut Matar, Avital Polsky, David E. Golan, Chen Raff, Noam Shomron, Lina Basel-Salmon, Tom Rabinowitz, Artem Danilevsky
Publikováno v:
Genome Research. 29:428-438
In the last decade, noninvasive prenatal diagnosis (NIPD) has emerged as an effective procedure for early detection of inherited diseases during pregnancy. This technique is based on using cell-free DNA (cfDNA) and fetal cfDNA (cffDNA) in maternal bl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72347c791710ef7fb4e03112952b36a0
https://doi.org/10.1101/gr.235796.118
https://doi.org/10.1101/gr.235796.118
Autor:
M. Eskin-Schwartz, Eran Cohen-Barak, Ora Bitterman-Deutsch, Sari Assaf, John A. McGrath, Stavit A. Shalev, N. Malchin, Noam Shomron, Giles G. Lestringant, Gideon Bach, Kiril Malovitski, Jacob Mashiah, Vered Molho-Pessach, Eli Sprecher, Tom Rabinowitz, L. Malki, Shirli Israeli, Ben Zion Garty, Arti Nanda, J. Mohamad, Avikam Harel, Liat Samuelov, Ofer Sarig, Meital Grafi-Cohen, Reuven Bergman
Publikováno v:
Experimental dermatologyREFERENCES. 30(9)
Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital icht
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ce87b5880cc31c0a073673c231bac7b
https://pubmed.ncbi.nlm.nih.gov/33786896
https://pubmed.ncbi.nlm.nih.gov/33786896