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Year | Number of Results |
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2019 | 2 |
2021 | 2 |
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Page 1
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
J Med Genet. 2023 Mar;60(3):233-240. doi: 10.1136/jmedgenet-2022-108508. Epub 2022 Jun 16.
J Med Genet. 2023.
PMID: 35710109
Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Koren T, Zagairy F, Tatour Y, Belhanes-Peled H, Khayat M, Krausz J, Danial-Farran N, Ziv M, Cohen-Barak E.
Koren T, et al. Among authors: zagairy f.
Exp Dermatol. 2022 Dec;31(12):1927-1931. doi: 10.1111/exd.14661. Epub 2022 Aug 23.
Exp Dermatol. 2022.
PMID: 35960249
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Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
Cohen-Barak E, Mwassi B, Zagairy F, Danial-Farran N, Khayat M, Tatour Y, Ziv M.
Cohen-Barak E, et al. Among authors: zagairy f.
J Dermatol. 2022 Mar;49(3):379-382. doi: 10.1111/1346-8138.16268. Epub 2021 Dec 9.
J Dermatol. 2022.
PMID: 34889473
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Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Fichtman B, Harel T, Biran N, Zagairy F, Applegate CD, Salzberg Y, Gilboa T, Salah S, Shaag A, Simanovsky N, Ayoubieh H, Sobreira N, Punzi G, Pierri CL, Hamosh A, Elpeleg O, Harel A, Edvardson S.
Fichtman B, et al. Among authors: zagairy f.
Am J Hum Genet. 2019 Jul 3;105(1):48-64. doi: 10.1016/j.ajhg.2019.05.003. Epub 2019 Jun 6.
Am J Hum Genet. 2019.
PMID: 31178128
Free PMC article.
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Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E.
Atzmony L, et al. Among authors: zagairy f.
JAMA Dermatol. 2024 Mar 27:e240152. doi: 10.1001/jamadermatol.2024.0152. Online ahead of print.
JAMA Dermatol. 2024.
PMID: 38536168
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Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Cohen-Barak E, Toledano-Alhadef H, Danial-Farran N, Livneh I, Mwassi B, Hriesh M, Zagairy F, Gafni-Amsalem C, Bashir H, Khayat M, Warrour N, Sher O, Marom D, Postovsky S, Dujovny T, Ziv M, Shalev SA.
Cohen-Barak E, et al. Among authors: zagairy f.
Exp Dermatol. 2022 May;31(5):775-780. doi: 10.1111/exd.14514. Epub 2021 Dec 20.
Exp Dermatol. 2022.
PMID: 34913528
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Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R.
Fichtman B, et al. Among authors: zagairy f.
Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7.
Nat Commun. 2019.
PMID: 30723199
Free PMC article.
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