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Dive into the research topics where Moshe Frydman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Chorin, O., Greenbaum, L., Lev-Hochberg, S., Feinstein-Goren, N., Eliyahu, A., Shani, H., Pras, E., Weissbach, T., Bolkier, Y., Heimer, G., Lev, D., Michelson, M., Regev, M., Josefsberg, S., Batzir, N. A., Shalata, A., Spiegel, R., Segel, R., Lobel, O. & Abu-Libdeh, B. & 5 others, , Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 132.Research output: Contribution to journal › Article › peer-review
Open Access -
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
Eliyahu, A., Barel, O., Greenbaum, L., Zaks Hoffer, G., Goldberg, Y., Raas-Rothschild, A., Singer, A., Bar-Joseph, I., Kunik, V., Javasky, E., Staretz-Chacham, O., Pode-Shakked, N., Bazak, L., Ruhrman-Shahar, N., Pras, E., Frydman, M., Shohat, M. & Pode-Shakked, B., 30 Mar 2022, In: Frontiers in Pediatrics. 10, 844845.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1
Brownstein, Z., Gulsuner, S., Walsh, T., Martins, F. T. A., Taiber, S., Isakov, O., Lee, M. K., Bordeynik-Cohen, M., Birkan, M., Chang, W., Casadei, S., Danial-Farran, N., Abu-Rayyan, A., Carlson, R., Kamal, L., Arnthórsson, A., Sokolov, M., Gilony, D., Lipschitz, N. & Frydman, M. & 30 others, , 1 Oct 2020, In: Clinical Genetics. 98, 4, p. 353-364 12 p.Research output: Contribution to journal › Article › peer-review
Open Access24 Scopus citations -
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
on behalf of the ClinGen Hearing Loss Working Group, 1 Nov 2019, In: Genetics in Medicine. 21, 11, p. 2442-2452 11 p.Research output: Contribution to journal › Article › peer-review
Open Access97 Scopus citations -
Wilson disease in Israel and vicinity
Amir, A. Z., Frydman, M. & Shteyer, E., 1 Jan 2018, Clinical and Translational Perspectives on WILSON DISEASE. Elsevier, p. 319-325 7 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review
3 Scopus citations