Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Morasha Plesser Duvdevani"'
Autor:
Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, Morasha Plesser Duvdevani, Tamar Harel, Luna Tammer, Baozhong Xin, Somayeh Bakhtiari, James Rice, Clare L. van Eyk, Jozef Gecz, Jean K. Mah, Derek Atkinson, Heidi Cope, Jennifer A. Sullivan, Alon M. Douek, Daniel Colquhoun, Jason Henry, Donald Wlodkowic, Yesim Parman, Ayşe Candayan, Elif Kocasoy-Orhan, Anat Ilivitzki, Shiri Soudry, Rina Leibu, Fabian Glaser, Valerie Sency, Gil Ast, Vandana Shashi, Michael C. Fahey, Esra Battaloğlu, Albena Jordanova, Vardiella Meiner, A. Micheil Innes, Heng Wang, Orly Elpeleg, Michael C. Kruer, Jan Kaslin, Hagit Baris Feldman
Publikováno v:
Am J Hum Genet
The American journal of human genetics
The American journal of human genetics
Cell adhesion molecules are membrane-bound proteins predominantly expressed in the central nervous system along principal axonal pathways with key roles in nervous system development, neural cell differentiation and migration, axonal growth and guida
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728e55ef43dca6709d1765690d9d96c9
https://pubmed.ncbi.nlm.nih.gov/35108495
https://pubmed.ncbi.nlm.nih.gov/35108495
Autor:
Judith Dagan, James R. Lupski, Tamar Harel, Ortal Avraham, Maria Pettersson, Anna Lindstrand, Ayala Frumkin, Morasha Plesser Duvdevani, Jesper Eisfeldt
Publikováno v:
Am J Med Genet A
Clinical laboratory diagnostic evaluation of the genomes of children with suspected genetic disorders, including chromosomal microarray and exome sequencing, cannot detect copy number neutral genomic rearrangements such as inversions, balanced transl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4239959ff53597b9c3fd99b4291be3
https://pubmed.ncbi.nlm.nih.gov/32125084
https://pubmed.ncbi.nlm.nih.gov/32125084
Autor:
Yael Goldberg, Morasha Plesser-Duvdevani, Naama Halpern, Vardiella Meiner, Ayala Hubert, Samuel N. Adler, Sherri Cohen, Orit Pappo, Avraham Shaag
Publikováno v:
Cancer Genetics. 208:621-624
Mutations in MCM9, which encodes DNA helicase, were recently shown to cause a clinical phenotype of primary ovarian failure and chromosomal instability. MCM9 plays an essential role in homologous recombination-mediated double-strand break repair. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::746e93573e3dbf7666fc6dcb9d8b2877
https://doi.org/10.1016/j.cancergen.2015.10.001
https://doi.org/10.1016/j.cancergen.2015.10.001
Autor:
Luna Kadouri, Yael Goldberg, Tamar Hamburger, Tamar Peretz, Morasha Plesser Duvdevani, Ayala Hubert, Naama Halpern
Publikováno v:
OncoTargets and therapy
Naama Halpern,1 Yael Goldberg,2 Luna Kadouri,2 Morasha Duvdevani,2 Tamar Hamburger,2 Tamar Peretz,2 Ayala Hubert2 1Institute of Oncology, The Chaim Sheba Medical Center, Tel Hashomer, Israel; 2Sharett Institute of Oncology, Hadassah Medical Center, H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8ca11ff7582f6fbf525a2ad0fd1e77
https://www.dovepress.com/clinical-course-and-outcome-of-patients-with-high-level-microsatellite-peer-reviewed-article-OTT
https://www.dovepress.com/clinical-course-and-outcome-of-patients-with-high-level-microsatellite-peer-reviewed-article-OTT
Autor:
Dan Arbell, Amir Zilkha, Smadar Horowitz Cederboim, Ayelet Gamliel, V.M. Kapuller, Rachel Katz-Brull, Stanley H. Korman, Elite Cohen, Morasha Plesser Duvdevani, Smadar Eventov-Friedman, Vardiella Meiner, Ayala Frumkin, Avraham Shaag, Ehud Banne
Publikováno v:
JIMD Reports ISBN: 9783662498323
Transaldolase (TALDO) deficiency has various clinical manifestations including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features. We report a case presenting prenatally with hyperechogenic bowel and intrauterine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9125a607e8896a90e64f6f7cbead3974
https://doi.org/10.1007/8904_2015_474
https://doi.org/10.1007/8904_2015_474
Publikováno v:
Social sciencemedicine (1982). 73(12)
This article reports on attitudes of modern-religious Ashkenazi Jewish adults in Israel toward anonymous carrier matching for severe monogenic diseases by Dor Yesharim (the ultra-orthodox organization) and open individual carrier testing (through a m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cdc8ed2c595e5b43f55f238a0e0f12
https://pubmed.ncbi.nlm.nih.gov/22033377
https://pubmed.ncbi.nlm.nih.gov/22033377