Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Lina Basel-Salmon"'
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:
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
Autor:
Yaron Einhorn, Moshe Einhorn, Alina Kurolap, Dror Steinberg, Adi Mory, Lily Bazak, Tamar Paperna, Julia Grinshpun-Cohen, Lina Basel-Salmon, Karin Weiss, Amihood Singer, Yuval Yaron, Hagit Baris Feldman
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-9 (2023)
Abstract Background The American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While many pan-ethnic genetic disorders are well established, some genes carry pathogenic founder va
Externí odkaz:
https://doaj.org/article/98d73e2983624db18de54e83054016dd
Autor:
Orna Steinberg-Shemer, Naama Orenstein, Tanya Krasnov, Sharon Noy-Lotan, Nathaly Marcoux, Orly Dgany, Joanne Yacobovich, Oded Gilad, Evelyn Shabad, Lina Basel-Salmon, Hannah Tamary
Publikováno v:
Platelets, Vol 33, Iss 4, Pp 645-648 (2022)
The transcription factor MEIS1 (myeloid ectotrophic insertion site 1) is crucial for the maintenance of hematopoietic stem cells and for megakaryopoiesis. Germline variants in MEIS1 are associated with restless-leg syndrome, but were not previously s
Externí odkaz:
https://doaj.org/article/a0653529476b4a479f065e4aeeccb2e1
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Abstract TUBB4A-associated disorder is a rare condition affecting the central nervous system. It displays a wide phenotypic spectrum, ranging from isolated late-onset torsion dystonia to a severe early-onset disease with developmental delay, neurolog
Externí odkaz:
https://doaj.org/article/f779275a9eed4160baa2920a67b8e8ac
Autor:
Rivka Sukenik-Halevy, MD, Ella Golbary Kinory, MS, Tamar Laron Kenet, MD, Dana Brabbing-Goldstein, MD, Yinon Gilboa, MD, Lina Basel-Salmon, MD, PhD, Sharon Perlman, MD
Publikováno v:
AJOG Global Reports, Vol 3, Iss 1, Pp 100171- (2023)
BACKGROUND: Local and worldwide prenatal charts for estimated fetal weight and postnatal charts for head circumference are gender specific. However, prenatal head circumference nomograms are not gender customized. OBJECTIVE: This study aimed to creat
Externí odkaz:
https://doaj.org/article/2a77b6d60a9349e8820b18badc2f3f86
Autor:
Lina Basel-Salmon, Noa Ruhrman-Shahar, Naama Orenstein, Michal Levy, Gabriel A. Lidzbarsky, Nurit A. Batzir, Marina Lifshitc-Kalis, Sarit Farage-Barhom, Gali Abel, Mayra Petasny, Dana Brabbing-Goldstein, Avi Fellner, Lily Bazak
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100813- (2023)
Purpose: Exome sequencing (ES) could detect pathogenic variants that are unrelated to the test indication, including findings that may have an impact for patients considering conception/reproduction (reproduction-related findings [RRFs]), deliberatel
Externí odkaz:
https://doaj.org/article/3c9f3c0169a74db9bf2377fbbc142be6
Autor:
Rebecca Truty, Susan Rojahn, Karen Ouyang, Curtis Kautzer, Michael Kennemer, Daniel Pineda-Alvarez, Britt Johnson, Amanda Stafford, Lina Basel-Salmon, Sulagna Saitta, Anne Slavotinek, Settara C. Chandrasekharappa, Carlos Jose Suarez, Leslie Burnett, Robert L. Nussbaum, Swaroop Aradhya
Publikováno v:
The American Journal of Human Genetics. 110:551-564
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10327a906fe9a593fb8f79865913699e
https://doi.org/10.1016/j.ajhg.2023.02.013
https://doi.org/10.1016/j.ajhg.2023.02.013
Publikováno v:
Journal of Perinatal Medicine.
For decades, prenatal screening and genetic testing strategies were limited, requiring less complex decisions. Recently, however, several new advanced technologies were introduced, including chromosomal microarray analysis (CMA) and non-invasive pren
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69200d874c95a43da048358b4b0c3824
https://doi.org/10.1515/jpm-2023-0014
https://doi.org/10.1515/jpm-2023-0014