Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hagit Baris Feldman"'
Autor:
Penina, Ponger, Alina, Kurolap, Israela, Lerer, Judith, Dagan, Chofit, Chai Gadot, Adi, Mory, Yael, Wilnai, Nino, Oniashvili, Nir, Giladi, Tanya, Gurevich, Vardiella, Meiner, Alexander, Lossos, Hagit, Baris Feldman
Publikováno v:
Journal of Molecular Neuroscience. 72:1715-1723
AOA2 is a rare progressive adolescent-onset disease characterised by cerebellar vermis atrophy, peripheral neuropathy and elevated serum alpha-fetoprotein (AFP) caused by pathogenic bi-allelic variants in SETX, encoding senataxin, involved in DNA rep
Autor:
Ayelet Zerem, Stephanie Libzon, Liat Ben Sira, Hadas Meirson, Moran Hausman-Kedem, Noam Haviv, Keren Yosovich, Adi Mory, Hagit Baris Feldman, Dorit Lev, Tally Lerman-Sagie, Aviva Fattal-Valevski, Yael Hacohen, Daphna Marom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b5b371964610af44b2760d47c8a342
https://doi.org/10.2139/ssrn.4344633
https://doi.org/10.2139/ssrn.4344633
Autor:
Adi Mory, R Wollstein, Tamar Paperna, G Larom-Khan, Vardit Adir, Hagit Baris Feldman, Alina Kurolap, Lena Sagi-Dain, Noam Adir, Alan R. Shuldiner, Claudia Gonzaga-Jauregui, Amir Peleg
Publikováno v:
Clinical Dysmorphology. 30:71-75
Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the ca
Autor:
Raanan Raz, Sagiv Shifman, Gal Meiri, Chen Schtaierman, Tali Gev, Simone G. Shamay-Tsoory, Hagit Baris Feldman, Nirit Bauminger-Zviely, Michal Faroy, Adi Aran, Doron Gothelf, Daphna Marom, Nadav Davidovitch, Illana Gozes, Anat Zaidman Zait, Dalit Ben Yosef, Orit Stolar, Raz Gross, Michal Begin, Yoram Bonneh, Yair Sadaka, Florina Uzefovsky, Ditza A. Zachor, Stephen Z. Levine, Hava Golan, Idan Menashe, Hagit Flusser, Esther Ben-Itzchak, Sandra Israel-Yaacov, Cory Shulman, Arad Kodesh, Lidia V. Gabis, Eynat Gal, Alal Eran, Ayelet Arazi, Ilan Dinstein, Ofer Golan, Analya Michaelovski, Judah Koller, Aviva Mimouni Bloch, Bat-Sheva Hadad, Irit Mor Snir, Eitan Bachmat, Michael Davidovitch, Evan Elliott
Publikováno v:
Journal of Molecular Neuroscience. 70:1303-1312
Publikováno v:
Rambam Maimonides Medical Journal
Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of “Gaucher cells.” These cells predominantly infiltrate the liver, spleen, and bone marrow leadin
Autor:
Robert D. Steiner, Yael Lebenthal, Aideen M. McInerney-Leo, Yline Capri, Daphné Lehalle, Adi Mory, Grażyna G Krzemień, Cathy L. Raggio, Monika Miklaszewska, Robert D. Blank, Hila Milo Rasouly, Ali G. Gharavi, Annabelle Enriquez, David T. Humphreys, Emma L. Duncan, Gavin Chapman, Elizabeth Wohler, Paul Leo, Jeanne Amiel, Eddie Ip, Clémantine Dimartino, Christopher T. Gordon, Yael Wilnai, Eleni Giannoulatou, Duncan B. Sparrow, Joelene A Greasby, Hagit Baris Feldman, Delicia Sheng, Rebekah Jobling, Kavitha R Iyer, Philip F Giampietro, Ella M M A Martin, Sally L. Dunwoodie, Nara Sobreira
Publikováno v:
Hum Mol Genet
The genetic causes of multiple congenital anomalies are incompletely understood. Here, we report novel heterozygous predicted loss-of-function (LoF) and predicted damaging missense variants in the WW domain binding protein 11 (WBP11) gene in seven un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9229c8b2fbc5fe323701900de73f4f
https://doi.org/10.1093/hmg/ddaa258
https://doi.org/10.1093/hmg/ddaa258