Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Noy Azulay"'
Autor:
Aasem Abu Shtaya, Inbal Kedar, Lily Bazak, Lina Basel-Salmon, Michal Naftali, Marina Eskin-Schwartz, Ohad Birk, Shirley Polager-Modan, Nitzan Keidar, Gili Reznick Levi, Zohar Levi, Ori Segol, Noy Azulay, Yael Goldberg
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100961- (2024)
Externí odkaz:
https://doaj.org/article/1e8f96f6a8ba4a31aba985859059afeb
Autor:
Rivka, Sukenik-Halevy, Sharon, Perlman, Noa, Ruhrman-Shahar, Offra, Engel, Naama, Orenstein, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak, Lina, Basel-Salmon
Publikováno v:
Prenatal Diagnosis. 42:717-724
Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac338ab5fd16a44b9b10f6d51b5b4d72
https://doi.org/10.1002/pd.6095
https://doi.org/10.1002/pd.6095
Autor:
Rivka Sukenik-Halevy, Noa Ruhrman-Shahar, Lina Basel-Salmon, Noy Azulay, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Ofir Hagari, Lily Bazak, Nurit Magal, Gabriel Arie Lidzbarsky, Naama Orenstein
Publikováno v:
Prenatal Diagnosis. 41:701-707
Objective Laboratories performing prenatal exome sequencing (ES) frequently limit analysis to predetermined gene lists. We used a diagnostic postnatal ES cohort to assess how many of the genes diagnosed are not included in a number of select fixed li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f23243101fb9b3cae897459b69ed1b8
https://doi.org/10.1002/pd.5929
https://doi.org/10.1002/pd.5929
Autor:
Yael Goldberg, Noa Ruhrman-Shahar, Rivka Sukenik-Halevy, Noy Azulay, Idit Maya, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Lina Basel-Salmon, Ofir Hagari, Nurit Magal, Lily Bazak, Naama Orenstein, Gabriel Arie Lidzbarsky
Publikováno v:
Genetics in Medicine. 23:215-221
PURPOSE Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation. METHODS Of 614 exomes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b3326d8a841b2e01325d13fcb434c06
https://doi.org/10.1038/s41436-020-00938-5
https://doi.org/10.1038/s41436-020-00938-5
Autor:
Noam Shomron, Noa Ruhrman-Shahar, Nurit Magal, Noy Azulay, Ofir Hagari, Naama Orenstein, Lina Basel-Salmon, Yael Goldberg, Yoel Gofin, Lily Bazak
Publikováno v:
Clinical Genetics. 101:265-266
A family with DYRK1B LOF variant offering to expand the phenotype beyond the metabolic syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db506e6a2356e36bc8d6f1b92ee1c94
https://doi.org/10.1111/cge.14084
https://doi.org/10.1111/cge.14084
Autor:
Lina, Basel-Salmon, Noa, Ruhrman-Shahar, Naama, Orenstein, Yael, Goldberg, Claudia, Gonzaga-Jauregui, Alan R, Shuldiner, Rivka, Sukenik-Halevy, Idit, Maya, Nurit, Magal, Ofir, Hagari, Noy, Azulay, Gabriel Arie, Lidzbarsky, Lily, Bazak
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(1)
Clinical data provided to genetic testing laboratories are frequently scarce. Our purpose was to evaluate clinical scenarios where phenotypic refinement in proband's family members might impact exome data interpretation.Of 614 exomes, 209 were diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1035f7bce60887ebdf245e8eafe69396
https://pubmed.ncbi.nlm.nih.gov/32801363
https://pubmed.ncbi.nlm.nih.gov/32801363