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Author/Creator Fedida, Ayalla

1. A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Issue 4 (April 2022)

Authors:
Issler, Naomi; Afonso, Sara; Weissman, Irith; Jordan, Katrin; Cebrian-Serrano, Alberto; Meindl, Katrin; Dahlke, Eileen; Tziridis, Konstantin; Yan, Guanhua; Robles-López, José M.; Tabernero, Lydia; Patel, Vaksha; Kesselheim, Anne; Klootwijk, Enriko D.; Stanescu, Horia C.; Dumitriu, Simona; Iancu, ...
Journal:
Journal of the American Society of Nephrology
Issue:
Volume 33:Issue 4(2022)
Page Start:
732
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. COG6‐CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. Issue 4 (4th August 2020)

Authors:
Mandel, Hanna; Cohen Kfir, Nehama; Fedida, Ayalla; Shuster Biton, Efrat; Odeh, Marwan; Kalfon, Limor; Ben‐Harouch, Shani; Fleischer Sheffer, Vered; Hoffman, Yoav; Goldberg, Yael; Dinwiddie, April; Dumin, Elena; Eran, Ayelet; Apel‐Sarid, Liat; Tiosano, Dov; Falik‐Zaccai, Tzipora C.
Journal:
Clinical genetics
Issue:
Volume 98:Issue 4(2020)
Page Start:
402
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗