Zobrazeno 1 - 10
of 1 493
pro vyhledávání: '"Tzipora"'
Publikováno v:
BMJ Paediatrics Open, Vol 8, Iss 1 (2024)
Background Neonatal sepsis remains a primary cause of morbidity and mortality among newborns. Rapid and accurate diagnosis poses a significant challenge—the non-specific clinical presentation of neonatal sepsis relies heavily on various laboratory
Externí odkaz:
https://doaj.org/article/8f1ea272b7a04f2da92a48230f11a927
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-7 (2024)
Abstract Background The aim of this study was to determine whether genetic variants are associated with idiopathic intracranial hypertension (IIH) in a unique village where many of the IIH patients have familial ties, a homogenous population and a hi
Externí odkaz:
https://doaj.org/article/429d8a8133b94bcaa47142c00ab23a8c
Autor:
Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C. Falik-Zaccai
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionPathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) d
Externí odkaz:
https://doaj.org/article/28e588f2d1774f7ca1b1b142b2aadc69
Autor:
Constance Van Horne, Tzipora Rakedzon
Publikováno v:
Education Sciences, Vol 14, Iss 3, p 248 (2024)
One demand imposed by the global market is the possession of adequate soft skills, a challenge commonly faced by STEM (science, technology, engineering, and mathematics) graduates. This challenge is particularly prominent in China, which produces mil
Externí odkaz:
https://doaj.org/article/cf8047e840654f99922695337a2e0d8b
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Autor:
Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel, Antonio Federico
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)
Abstract Background Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and treatment initiation ca
Externí odkaz:
https://doaj.org/article/56eced4666ed4a9294999a269eca7839
Autor:
Aviv Mesika, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and live
Externí odkaz:
https://doaj.org/article/2983d13944c74f0ba1fc66bb54de42d8
Publikováno v:
Frontiers in Computer Science, Vol 4 (2022)
At present, interfaces between users and smart devices such as smart phones rely primarily on passwords. This has allowed for the intrusion and perturbation of the interface between the user and the device and has compromised security. Recently, Fran
Externí odkaz:
https://doaj.org/article/cd28ec9ef36741a29f470f87347daff4
Autor:
Nehama Cohen-Kfir, Miriam Ethel Bentwich, Andrew Kent, Nomy Dickman, Mary Tanus, Basem Higazi, Limor Kalfon, Mary Rudolf, Tzipora C. Falik-Zaccai
Publikováno v:
BMC Medical Ethics, Vol 21, Iss 1, Pp 1-16 (2020)
Abstract Background The Arab population in Israel is a minority ethnic group with its own distinct cultural subgroups. Minority populations are known to underutilize genetic tests and counseling services, thereby undermining the effectiveness of thes
Externí odkaz:
https://doaj.org/article/555e9839e75a4c03a817327808d14cb3
Publikováno v:
Biomedicine Hub, Vol 5, Iss 2, Pp 68-71 (2020)
Externí odkaz:
https://doaj.org/article/e4c6b29b324d45cfa2ea1081084c7002