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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Lecca M, Pehlivan D, Suñer DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contrò G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauzá CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Güngör S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmüller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E. Lecca M, et al. Among authors: zehavi y. Am J Hum Genet. 2023 Apr 6;110(4):681-690. doi: 10.1016/j.ajhg.2023.03.005. Epub 2023 Mar 29. Am J Hum Genet. 2023. PMID: 36996813 Free PMC article.
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.
Curelaru S, Desai AK, Fink D, Zehavi Y, Kishnani PS, Spiegel R. Curelaru S, et al. Among authors: zehavi y. Mol Genet Metab Rep. 2022 Jul 6;32:100893. doi: 10.1016/j.ymgmr.2022.100893. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35813979 Free PMC article.
A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay.
Hexner-Erlichman Z, Fichtman B, Zehavi Y, Khayat M, Jabaly-Habib H, Izhaki-Tavor LS, Dessau M, Elpeleg O, Spiegel R. Hexner-Erlichman Z, et al. Among authors: zehavi y. Front Pediatr. 2022 May 17;10:859034. doi: 10.3389/fped.2022.859034. eCollection 2022. Front Pediatr. 2022. PMID: 35656379 Free PMC article.
29 results