Browsing by Author Barel, O.
Showing results 1 to 2 of 2
Issue Date | Title | Author(s) |
---|---|---|
2016 | Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency | Dionisi-vici, C.; Eyal, E.; Kol, N.; Haberman, Y.; Lahad, A.; Diomedi-camassei, F.; Marek-yagel, D.; Rechavi, G.; Tartaglia, M.; Anikster, Y.; Shteyer, E.; Niceta, M.; Rizzo, C.; Pode-shakked, B.; Chillemi, Giovanni ; Bruselles, A.; Semeraro, M.; Barel, O. |
2017 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD | Pode-shakked, B.; Niceta, M.; Eyal, E.; Kol, N.; Ben-zeev, B.; Bar-yosef, O.; Marek-yagel, D.; Bertini, E.; Duker Al; Anikster, Y.; Tartaglia, M.; Barash, H.; Raas-rothschild, A.; Ziv, L.; Gripp Kw; Flex, E.; Barel, O.; Carvalho Ks; Scavina, M.; Chillemi, Giovanni |