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Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Nasi L, Alexopoulos A, Kokkinou E, Roka K, Tzetis M, Tsipi M, Kakourou T, Kanaka-Gantenbein C, Chrousos G, Kattamis A, Pons R; Agia Sophia Neurocutaneous Group. Nasi L, et al. Among authors: pons r. Acta Derm Venereol. 2023 Jun 5;103:adv5758. doi: 10.2340/actadv.v103.5758. Acta Derm Venereol. 2023. PMID: 37272364 Free PMC article.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Among authors: pons r. Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14. Expert Rev Mol Diagn. 2023. PMID: 36714946
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: pons r. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
The implications of the COVID-19 pandemic on eating disorder features and comorbid psychopathology among adolescents with anorexia nervosa and matched controls: a comparative cohort design study.
Bracké K, Steegers C, van der Harst T, Pons R, Legerstee J, Dierckx B, de Nijs P, Bax-van Berkel M, van Elburg A, Hekkelaan M, Hokke J, de Jong-Zuidema H, Korthals Altes L, Lengton-van der Spil F, Luijkx J, Schuurmans F, Smeets C, van Wijk L, Woltering C, Vernooij M, Hillegers M, White T, Dieleman G. Bracké K, et al. Among authors: pons r. Eat Weight Disord. 2024 Feb 12;29(1):13. doi: 10.1007/s40519-024-01640-0. Eat Weight Disord. 2024. PMID: 38347293 Free PMC article.
280 results