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The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia.
Riskin A, Bravdo Y, Habib C, Maor I, Mousa J, Shahbarat S, Shahak E, Shalata A. Riskin A, et al. Among authors: habib c. Children (Basel). 2023 Jul 6;10(7):1172. doi: 10.3390/children10071172. Children (Basel). 2023. PMID: 37508669 Free PMC article.
Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, Fattal-Valevski A, Falik-Zaccai TC, Habib C, Josefsberg S, Korman SH, Kneller K, Landau Y, Lerman-Sagie T, Mandel H, Manor Y, Moady Abdalla T, Rock R, Rostami N, Saada A, Saraf-Levy T, Shaul Lotan N, Spiegel R, Staretz-Chacham O, Tal G, Ulanovsky I, Vaisid T, Wilnai Y, Almashanu S. Daas S, et al. Among authors: habib c. J Inherit Metab Dis. 2023 Mar;46(2):232-242. doi: 10.1002/jimd.12580. Epub 2022 Dec 20. J Inherit Metab Dis. 2023. PMID: 36515074
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y, Hershkovitz T, Ekhilevitch N, Habib C, Ravid S, Tal G, Schertz M, Mory A, Zinger A, Baris Feldman H, Zaid R, Paperna T, Weiss K. Nakhleh Francis Y, et al. Among authors: habib c. Genet Med Open. 2023 Aug 4;1(1):100828. doi: 10.1016/j.gimo.2023.100828. eCollection 2023. Genet Med Open. 2023. PMID: 39669259 Free PMC article.
74 results